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neu-laxova syndrome (62) 62
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neu-laxova-syndrome (8) 8
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neu laxova syndrome (6) 6
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American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2015, Volume 167, Issue 6, pp. 1323 - 1329
In some cases Neu‐Laxova syndrome (NLS) is linked to serine deficiency due to mutations in the phosphoglycerate dehydrogenase (PHGDH) gene. We describe the... 
phosphoglycerate dehydrogenase | magnetic resonance imaging | Neu‐Laxova syndrome | prenatal diagnosis | serine metabolism | Serine metabolism | Prenatal diagnosis | Phosphoglycerate dehydrogenase | Magnetic resonance imaging | Neu-Laxova syndrome | Abnormalities, Multiple - pathology | Limb Deformities, Congenital - genetics | Microcephaly - genetics | Seizures - genetics | Humans | Brain Diseases - genetics | Molecular Sequence Data | Fetal Growth Retardation - genetics | Male | Carbohydrate Metabolism, Inborn Errors - genetics | Genes, Lethal | Genetic Variation | Ichthyosis - pathology | Psychomotor Disorders - genetics | Seizures - pathology | Base Sequence | Microcephaly - pathology | Ichthyosis - genetics | Female | Fetus | Fetal Growth Retardation - diagnosis | Abnormalities, Multiple - genetics | Infant, Newborn | Carbohydrate Metabolism, Inborn Errors - diagnosis | Ichthyosis - diagnosis | Severity of Illness Index | Gene Expression | Brain Diseases - diagnosis | Psychomotor Disorders - pathology | Microcephaly - diagnosis | Genotype | Seizures - diagnosis | Codon, Nonsense | Carbohydrate Metabolism, Inborn Errors - pathology | Sequence Analysis, DNA | Fetal Growth Retardation - pathology | Phosphoglycerate Dehydrogenase - genetics | Homozygote | Limb Deformities, Congenital - diagnosis | Phenotype | Brain Diseases - pathology | Pedigree | Ultrasonography, Prenatal | Abnormalities, Multiple - diagnosis | Psychomotor Disorders - diagnosis | Consanguinity | Phosphoglycerate Dehydrogenase - deficiency | Limb Deformities, Congenital - pathology | Genetic aspects | Codon | Nucleotide sequencing | Pregnant women | Genes | DNA sequencing
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 05/2019, Volume 179, Issue 5, pp. 813 - 816
Neu–Laxova syndrome (NLS) is a lethal autosomal recessive microcephaly syndrome associated with intrauterine growth restriction (IUGR) and multiple congenital... 
cystic hygroma | exome sequencing | PHGDH | nuchal translucency | Neu–Laxova syndrome | DEFECTS | GENE | Neu-Laxova syndrome | GENETICS & HEREDITY | MUTATIONS | Genetic disorders | Codon | Diagnosis | Pregnant women | Genomics | Hypoplasia | Cerebellum | Edema | Brain stem | Congenital defects | Fetuses | Central nervous system | Pyramidal tracts | Genetic screening | Ichthyosis | Pregnancy | Prenatal diagnosis | Microencephaly | Skin | Arthrogryposis
Journal Article
Turk Patoloji Dergisi, ISSN 1018-5615, 2018, Volume 34, Issue 3, pp. 259 - 261
The Neu-Laxova syndrome is a rare autosomal recessive condition associated with neuro-ectodermal abnormalities and other patterns of severe malformations... 
Neu-laxova syndrome | Kyphosis | Phgdh mutation | Lissencephaly | Neu-Laxova syndrome | PHGDH mutation
Journal Article
Advanced biomedical research, ISSN 2277-9175, 2018, Volume 7, Issue 1, pp. 68 - 68
Neu-Laxova syndrome (NLS) is an autosomal recessive disorder characterized by central nervous system anomalies, facial dysmorphic features, anomalies of limb... 
Care and treatment | Infants | Research | Multiple abnormalities | Health aspects | Ichthyosis | Edema | Genitalia | Congenital diseases | Growth rate | Abnormalities | Central nervous system | Microcephaly | Hereditary diseases | Abdomen | Babies | Ultrasonic imaging | Respiratory distress syndrome | Newborn babies | Consent | Nose | Arthrogryposis | Anomalies | Neu–Laxova syndrome | microcephalia
Journal Article
Annales de Pathologie, ISSN 0242-6498, 08/2016, Volume 36, Issue 4, pp. 235 - 244
Introduction The Neu-Laxova syndrome (NLS) is a rare autosomal recessive and early lethal disorder. It is characterized by severe intra-uterine growth... 
Fœtopathology | Prenatal diagnosis | Neu-Laxova syndrome | Serine | Pregnancy abortion
Journal Article
10/2009
Neu-Laxova syndrome is a rare lethal congenital disorder involving multiple systems. Intrauterine growth retardation, ichthyosis, microcephaly, abnormal facial... 
Neu-laxova syndrome | Newborn | Appropriate for gestational age
Web Resource
Fetal & Pediatric Pathology, ISSN 1551-3815, 1/2012, Volume 31, Issue 1, pp. 1 - 5
Journal Article
ANNALES DE PATHOLOGIE, ISSN 0242-6498, 08/2016, Volume 36, Issue 4, pp. 235 - 244
Journal Article
Journal of the European Academy of Dermatology and Venereology, ISSN 0926-9959, 10/2006, Volume 20, Issue 9, pp. 1126 - 1128
Neu–Laxova syndrome (NLS) is a rare autosomal recessive syndrome, characterized by severe intrauterine growth retardation (IUGR), microcephaly, abnormal brain... 
Neu–Laxova syndrome | ichthyosis | growth retardation | Neu-Laxova syndrome | Growth retardation | Ichthyosis | DIAGNOSIS | MANIFESTATIONS | DERMATOLOGY | Abnormalities, Multiple - pathology | Erythema - pathology | Diagnosis, Differential | Humans | Female | Infant, Newborn | Syndrome
Journal Article
Annals of Dermatology, ISSN 1013-9087, 11/2013, Volume 25, Issue 4, pp. 483 - 488
Neu-Laxova syndrome is a rare, lethal, autosomal recessive disorder characterized by intrauterine growth retardation, central nervous system anomalies, skin... 
Neu Laxova syndrome | Collodion baby | Ichthyosis | FETUS | OF-THE-LITERATURE | RESTRICTIVE DERMOPATHY | DERMATOLOGY | Case Report | 피부과학
Journal Article
Fetal and Pediatric Pathology, ISSN 1551-3815, 05/2016, Volume 35, Issue 3, pp. 207 - 208
Journal Article
Annals of Dermatology, ISSN 1013-9087, 2013, Volume 25, Issue 4, p. 483
Neu-Laxova syndrome is a rare, lethal, autosomal recessive disorder characterized by intrauterine growth retardation, central nervous system anomalies, skin... 
Neu Laxova syndrome | Collodion baby | Ichthyosis
Journal Article
Indian Journal of Dermatology, Venereology and Leprology, ISSN 0378-6323, 10/2009, Volume 74, Issue 5
Neu-Laxova syndrome is a rare lethal congenital disorder involving multiple systems. Intrauterine growth retardation, ichthyosis, microcephaly, abnormal facial... 
Neu-laxova syndrome | Newborn | Appropriate for gestational age
Journal Article
Journal of the Turkish German Gynecological Association, ISSN 1309-0399, 2010, Volume 11, Issue 4, pp. 225 - 227
Neu-laxova syndrome is a lethal, autosomal recessive condition associated with ectodermal abnormalities and other characteristic features, including... 
Journal Article
Journal of Maternal-Fetal and Neonatal Medicine, ISSN 1476-7058, 07/2006, Volume 19, Issue 7, pp. 439 - 442
Neu-Laxova syndrome is a rare group of congenital malformations including intrauterine growth retardation (IUGR), microcephaly, central nervous system... 
microcephaly | polyhydramnios | facial abnormalities | Neu-Laxova syndrome | central nervous system alterations | ichthyosis | generalized edema
Journal Article
Indian Journal of Dermatology, Venereology and Leprology, ISSN 0378-6323, 2008, Volume 74, Issue 5, pp. 487 - 489
Neu-Laxova syndrome is a rare lethal congenital disorder involving multiple systems. Intrauterine growth retardation, ichthyosis, microcephaly, abnormal facial... 
Neu-laxova syndrome | Appropriate for gestational age | Newborn | DIAGNOSIS | MANIFESTATIONS | DERMATOLOGY | Pregnancy | Young Adult | Abnormalities, Multiple - diagnosis | Humans | Fatal Outcome | Female | Male | Gestational Age | Abnormalities, Multiple - genetics | Infant, Newborn | Syndrome | Case studies | Care and treatment | Genetic disorders | Diagnosis | Gestational age | Risk factors | Newborn babies
Journal Article
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