SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features

American Journal of Medical Genetics, Part A

Volumn 170, Issue 12, 2016, Pages 3165-3171

  Wheeler, Patricia G ^a   Ng, Bobby G ^b   Sanford, Laura ^a   Sutton, V Reid ^c   Bartholomew, Dennis W ^d   Pastore, Matthew T ^d   Bamshad, Michael J ^e,f   Kircher, Martin ^f   Buckingham, Kati J ^f   Nickerson, Deborah A ^e   Shendure, Jay ^e   Freeze, Hudson H ^b  

^a NEMOURS CHILDREN S HOSPITAL   (United States)

^b BURNHAM INSTITUTE   (United States)

^c TEXAS CHILDREN S HOSPITAL   (United States)

^d OHIO STATE UNIVERSITY   (United States)

^e UNIVERSITY OF WASHINGTON   (United States)

^f UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

congenital disorder of glycosylation; kyphosis; optic atrophy; palmoplantar keratoderma; SRD5A3

Indexed keywords

OXIDOREDUCTASE; POLYPRENOL REDUCTASE; UNCLASSIFIED DRUG; 3,7,11,15-TETRAMETHYL-2,4,6,10,14-HEXADECAPENTAENOIC ACID; DOLICHOL; MEMBRANE PROTEIN; RETINOIC ACID; SRD5A3 PROTEIN, HUMAN; STEROID 5ALPHA REDUCTASE;

ADULT; ARTICLE; CATARACT; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; CONGENITAL DISORDER OF GLYCOSYLATION; CONTROLLED STUDY; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; KYPHOSIS; LETHARGY; MALE; MICROARRAY ANALYSIS; MOLECULAR PATHOLOGY; MUSCLE WEAKNESS; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; OPTIC NERVE ATROPHY; OPTIC NERVE HYPOPLASIA; PALMOPLANTAR KERATODERMA; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PSORIASIS; RETINITIS PIGMENTOSA; SCHOOL CHILD; SEIZURE; SINGLE NUCLEOTIDE POLYMORPHISM; SOMNOLENCE; SRD5A3 GENE; TREMOR; ANALOGS AND DERIVATIVES; EYE; GENETICS; GLYCOSYLATION; HOMOZYGOTE; METABOLISM; MUTATION; PATHOPHYSIOLOGY; SKIN;

3-OXO-5-ALPHA-STEROID 4-DEHYDROGENASE; ADULT; CHILD; CONGENITAL DISORDERS OF GLYCOSYLATION; DOLICHOL; EYE; FEMALE; GLYCOSYLATION; HOMOZYGOTE; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION; PHENOTYPE; SKIN; TRETINOIN;

EID: 84979998497     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37875     Document Type: Article

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