C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients

Clinical Genetics

Volumn 78, Issue 6, 2010, Pages 585-590

  Alazami, A M ^a   Schneider, S A ^b,c   Bonneau, D ^d   Pasquier, L ^e   Carecchio, M ^c   Kojovic, M ^c   Steindl, K ^f   De Kerdanet, M ^e   Nezarati, M M ^g   Bhatia, K P ^c   Degos, B ^h   Goh, E ⁱ   Alkuraya, F S ^a,j,k  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b UNIVERSITY OF LÜBECK   (Germany)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d ANGERS UNIVERSITY HOSPITAL   (France)

^e RENNES UNIVERSITY HOSPITAL   (France)

^f BELCOLLE HOSPITAL   (Italy)

^g NORTH YORK GENERAL HOSPITAL   (Canada)

^h PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

ⁱ HOSPITAL FOR SICK CHILDREN   (Canada)

^j KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^k ALFAISAL UNIVERSITY   (Saudi Arabia)

more..

Author keywords

Alopecia; Diabetes; Hypogonadism; Mental retardation; Woodhouse Sakati

Indexed keywords

ANDROGEN; ESTROGEN;

ADOLESCENT; ADULT; ALOPECIA; ANDROGEN THERAPY; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; C2ORF37 GENE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; DIABETES MELLITUS; DYSTONIA; ETHNIC GROUP; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HEARING IMPAIRMENT; HUMAN; HYPOGONADISM; LABORATORY TEST; MALE; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; WOODHOUSE SAKATI SYNDROME;

ADOLESCENT; ADULT; ALOPECIA; ARRHYTHMIAS, CARDIAC; BASE SEQUENCE; CHILD; CHROMOSOMES, HUMAN, PAIR 2; COHORT STUDIES; DIABETES MELLITUS; HUMANS; HYPOGONADISM; MALE; MENTAL RETARDATION; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; OPEN READING FRAMES;

EID: 78149273045     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01441.x     Document Type: Article

References (9)

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