Phenotypic Features of Patients With Congenital Adrenal Hypoplasia and Glycerol Kinase Deficiency

Joyce E. Wise; Reuben Matalon; Andrew M. Morgan; Edward R.B. McCabe

doi:10.1001/archpedi.1987.04460070046020

Phenotypic Features of Patients With Congenital Adrenal Hypoplasia and Glycerol Kinase Deficiency

Joyce E. Wise, Reuben Matalon, Andrew M. Morgan, Edward R.B. McCabe

Research output: Contribution to journal › Article › peer-review

29 Scopus citations

Abstract

Two unrelated boys with congenital adrenal hypoplasia and glycerol kinase deficiency were found to have similar features, including characteristic fades, testicular abnormalities, short stature, psychomotor retardation, and muscular dystrophy. The resemblance of these boys to other patients described in the literature suggests that a distinct phenotypic syndrome occurs in children with congenital adrenal hypoplasia and glycerol kinase deficiency.

Original language	English (US)
Pages (from-to)	744-747
Number of pages	4
Journal	American Journal of Diseases of Children
Volume	141
Issue number	7
DOIs	https://doi.org/10.1001/archpedi.1987.04460070046020
State	Published - Jul 1987
Externally published	Yes

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1001/archpedi.1987.04460070046020

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title = "Phenotypic Features of Patients With Congenital Adrenal Hypoplasia and Glycerol Kinase Deficiency",

abstract = "Two unrelated boys with congenital adrenal hypoplasia and glycerol kinase deficiency were found to have similar features, including characteristic fades, testicular abnormalities, short stature, psychomotor retardation, and muscular dystrophy. The resemblance of these boys to other patients described in the literature suggests that a distinct phenotypic syndrome occurs in children with congenital adrenal hypoplasia and glycerol kinase deficiency.",

author = "Wise, {Joyce E.} and Reuben Matalon and Morgan, {Andrew M.} and McCabe, {Edward R.B.}",

year = "1987",

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AU - McCabe, Edward R.B.

PY - 1987/7

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AB - Two unrelated boys with congenital adrenal hypoplasia and glycerol kinase deficiency were found to have similar features, including characteristic fades, testicular abnormalities, short stature, psychomotor retardation, and muscular dystrophy. The resemblance of these boys to other patients described in the literature suggests that a distinct phenotypic syndrome occurs in children with congenital adrenal hypoplasia and glycerol kinase deficiency.

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Phenotypic Features of Patients With Congenital Adrenal Hypoplasia and Glycerol Kinase Deficiency

Abstract

ASJC Scopus subject areas

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