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Science, ISSN 0036-8075, 2014, Volume 343, Issue 6170, pp. 506 - 511
Journal Article
Cell Reports, ISSN 2211-1247, 01/2015, Volume 10, Issue 2, pp. 148 - 161
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2013, Volume 12, Issue 12, pp. 1159 - 1169
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2019, Volume 179, Issue 10, pp. 2039 - 2042
Lenz–Majewski syndrome (LMS) is an extremely rare type of cutis laxa caused by dominant mutations in PTDSS1 gene. We report an Egyptian patient who presented... 
hand patterning | diverse populations | de novo PTDSS1 mutation | Lenz–Majewski syndrome | large and/or convex fingernails | Egypt | or convex fingernails | Lenz-Majewski syndrome | MUTATION | GENETICS & HEREDITY | large and | Skin | Fingernail | Missense mutation | Mutation | Majewski syndrome | Brachydactyly
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2013, Volume 93, Issue 6, pp. 1001 - 1014
Journal Article
Human mutation, ISSN 1059-7794, 2013, Volume 34, Issue 5, pp. 686 - 696
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2019, Volume 179, Issue 6, pp. 1053 - 1057
We report two siblings with microcephaly, early infantile onset seizures, and cerebellar vermis hypoplasia, in whom whole exome sequencing revealed a novel... 
microcephaly | cerebellar vermis hypoplasia | HHAT | Nivelon–Nivelon–Mabille syndrome | missense variant | GENE | SONIC HEDGEHOG | MUTATION | GENETICS & HEREDITY | Nivelon-Nivelon-Mabille syndrome | Enzymes | Genomics | Seizures (Medicine) | Hypoplasia | Cerebellum | Microencephaly | Microcephaly | Hedgehog protein | Seizures
Journal Article
Neuroradiology, ISSN 0028-3940, 10/2018, Volume 60, Issue 10, pp. 1053 - 1061
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2019, Volume 179, Issue 3, pp. 494 - 497
Biallelic variants in the NDE1 gene have been shown to occur in extreme microcephaly. Most of the patients displayed microlissencephaly but one with... 
microcephaly | prenatal ultrasound | fusion of thalami | microhydranencephaly | microlissencephaly | NDE1 | GENETICS & HEREDITY | MUTATIONS | Pregnant women | Hypoplasia | Cerebellum | Phenotypes | Brain stem | Congenital defects | Fetuses | Cerebral hemispheres | Cerebrospinal fluid | Gestation | Corpus callosum | Microencephaly | Magnetic resonance imaging | Etiology | Hydranencephaly | Ultrasound
Journal Article