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Medicine, ISSN 0025-7974, 01/2019, Volume 98, Issue 1, p. e13850
Rationale: X-linked dominant chondrodysplasia punctata type 2 (CDPX2) is a condition involving facial, skin, and skeletal dysplasia as a result of a mutation in emopamil binding protein (EBP... 
INACTIVATION | MEDICINE, GENERAL & INTERNAL | EBP | FAMILIES | CDPX2 | HUNERMANN-HAPPLE-SYNDROME | MUTATIONS | X-chromosome inactivation | 8-dehydrocholesterol | MOSAICISM | Pregnancy | Phenotype | Ultrasonography, Prenatal | Humans | Chondrodysplasia Punctata - genetics | Chondrodysplasia Punctata - diagnosis | Female | Case studies | Fetal diseases | Genetic aspects | Diagnosis | Chondrodysplasia punctata
Journal Article
Journal of Pediatric Orthopaedics, ISSN 0271-6798, 10/2019, Volume 39, Issue 9, pp. e680 - e686
BACKGROUND:Cervical spine deformity in rhizomelic chondrodysplasia punctata (RCDP) has been described with different findings reported in the literature... 
tethered cord | cervical kyphosis | STENOSIS | MRI | cervical MRI | cervical stenosis | CORD COMPRESSION | PEDIATRICS | ORTHOPEDICS | chondrodysplasia punctata
Journal Article
International Journal of Pediatric Otorhinolaryngology, ISSN 0165-5876, 2016, Volume 93, pp. 100 - 102
Abstract Chondrodysplasia punctata is a group of congenital bone and cartilage disorders characterized by erratic calcification during development... 
Otolaryngology | Pediatrics | Balloon dilation | Airway obstruction | Chondrodysplasia punctata | PEDIATRICS | STENOSIS | OTORHINOLARYNGOLOGY | Chondrodysplasia Punctata - diagnosis | Infant | Male | Chondrodysplasia Punctata - complications | Humans | Tracheal Stenosis - etiology | Medical colleges | Genetic disorders
Journal Article
The Journal of clinical investigation, ISSN 0021-9738, 2014, Volume 124, Issue 6, pp. 2560 - 2570
Rhizomelic chondrodysplasia punctata (RCDP) is a developmental disorder characterized by hypotonia, cataracts, abnormal ossification, impaired motor development, and intellectual disability... 
MEDICINE, RESEARCH & EXPERIMENTAL | PEX7 | LOCALIZATION | GLYCOGEN-SYNTHASE KINASE-3 | MICE | REFSUM-DISEASE | BASIC-PROTEIN | IDENTIFICATION | NEUREGULIN-1 | MOUSE MODELS | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA | Peripheral Nervous System - physiology | Chondrodysplasia Punctata, Rhizomelic - etiology | Receptors, Cytoplasmic and Nuclear - deficiency | Humans | Glycogen Synthase Kinase 3 beta | Male | Peripheral Nervous System - cytology | Mice, Neurologic Mutants | Schwann Cells - cytology | Female | Schwann Cells - physiology | Proto-Oncogene Proteins c-akt - metabolism | Cell Differentiation - physiology | Myelin Sheath - physiology | Myelin Basic Protein - metabolism | Peroxisomal Targeting Signal 2 Receptor | Signal Transduction | Glycogen Synthase Kinase 3 - antagonists & inhibitors | Chondrodysplasia Punctata, Rhizomelic - physiopathology | Receptors, Cytoplasmic and Nuclear - genetics | Nerve Regeneration | Glycogen Synthase Kinase 3 - metabolism | Mice, Knockout | Plasmalogens - physiology | Animals | Mice | Chondrodysplasia Punctata, Rhizomelic - pathology | Models, Neurological | Physiological aspects | Myelination | Phosphorylation | Cellular signal transduction | Cell differentiation | Schwann cells | Proteins | Medical research | Genotype & phenotype | Microscopy | Rodents | Colleges & universities | Nervous system | Software | Biosynthesis | Kinases | Defects
Journal Article
Indian Journal of Critical Care Medicine, ISSN 0972-5229, 7/2018, Volume 22, Issue 7, pp. 552 - 554
Chondrodysplasia punctata (CDP) is a group of skeletal dysplasias characterized primarily by punctate calcifications in cartilage... 
tracheal calcifications | Conradi disease | Airway stenosis | chondrodysplasia punctata | Case studies | Diagnosis | Pediatric research | Chondrodysplasia punctata | Babies | Ventilators | Ostomy | Genetic counseling | Congenital diseases | Consent | Calcification | Bones | Thyroid gland | Intubation | Family medical history | Metabolism | Case Report
Journal Article
Auris Nasus Larynx, ISSN 0385-8146, 2016, Volume 44, Issue 5, pp. 616 - 619
Journal Article
Journal Article
BMC pediatrics, ISSN 1471-2431, 2019, Volume 19, Issue 1, pp. 250 - 6
BackgroundX-linked recessive chondrodysplasia punctate (CDPX1) is a rare congenital disorder of bone and cartilage development, caused by a mutation in the... 
XP22.3 | Whole exome sequencing | ARYLSULFATASE-E | CORD COMPRESSION | PEDIATRICS | X-linked recessive chondrodysplasia punctate | Arylsulfatase E | Prenatal ultrasound | DELETION | Usage | Ultrasonic imaging | Gene mutations | Chondrodysplasia punctata | Ultrasonics in obstetrics | Fetus | Genetic aspects | Diagnosis | Research | Pediatric research
Journal Article
Journal Article
Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 08/2017, Volume 30, Issue 8, pp. 889 - 892
Background: Rhizomelic chondrodysplasia punctata (RCDP) is a rare peroxisomal disease characterised by punctate calcifications of non-ossified cartilage epiphyseal centres... 
phytanic acid | rhizomelic chondrodysplasia punctata | gene mutation | PEX7 gene mutation | DISORDERS | PEDIATRICS | ENDOCRINOLOGY & METABOLISM | Homozygote | Phenotype | Humans | Infant | Male | Mutation | Chondrodysplasia Punctata, Rhizomelic - genetics | Peroxisomal Targeting Signal 2 Receptor - genetics | Case studies | Care and treatment | Children | Diagnosis | Diseases
Journal Article
Indian Journal of Paediatric Dermatology, ISSN 2319-7250, 7/2019, Volume 20, Issue 3, pp. 255 - 257
Conradi-Hunermann syndrome is a common form of chondrodysplasia punctata, inherited as X-linked dominant disorder of cholesterol metabolism due to mutation of emopamil-binding protein gene resulting... 
Infants (Newborn) | Surveys | Genetic disorders | Physiological aspects | Eye diseases | Genetic aspects | Protein binding | Chondrodysplasia punctata | Conradi–Hunermann syndrome | emopamil-binding protein gene
Journal Article
Clinical Case Reports, ISSN 2050-0904, 09/2017, Volume 5, Issue 9, pp. 1435 - 1437
...‐linked dominant chondrodysplasia punctata (CDPX2). A prenatally ascertained case representing the more severe end of the X... 
X‐linked | prenatal | Chondrodysplasia | severe | punctata
Journal Article