Study of a kindred with classic congenital adrenal hyperplasia: Diagnostic challenge due to phenotypic variance

Journal of Clinical Endocrinology and Metabolism

Volumn 83, Issue 6, 1998, Pages 1940-1945

  Chin, Daisy ^a   Speiser, Phyllis W ^b   Imperato Mcginley, Julianne ^c   Dixit, Naznin ^b   Uli, Naveen ^a   David, Raphael ^a   Oberfield, Sharon E ^a,d  

^a NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

^b N Shore University Medical Center   (United States)

^c WEILL CORNELL MEDICAL CENTER   (United States)

^d NEW YORK PRESBYTERIAN HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE; ISOLEUCINE; STEROID; STEROID 21 MONOOXYGENASE;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; FAMILY STUDY; FEMALE; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOTE; HUMAN; MALE; NEWBORN SCREENING; PHENOTYPE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SIBLING; STEROID 21 MONOOXYGENASE DEFICIENCY; STEROIDOGENESIS;

ADRENAL HYPERPLASIA, CONGENITAL; BASE SEQUENCE; CHILD, PRESCHOOL; FEMALE; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INTRONS; MALE; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; STEROID 21-HYDROXYLASE;

EID: 0031765277     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.83.6.1940     Document Type: Article

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