Acta Endocrinol (Copenh). 1979 Nov;92(3):542-6.

Unusual heterozygotes of congenital adrenal hyperplasia due to 21-hydroxylase deficiency confirmed by HLA tissue typing.

Abstract

In a previous publication, three relatives of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency from two families were considered to be unusual heterozygotes rather than homozygotes with mild clinical manifestations. Their heterozygosity could now be confirmed by HLA tissue typing.

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[Detection of heterozygous carriers of 21-hydroxylase deficiency-HLA typing and endocrinological study (author's transl)]. [Horumon To Rinsho. 1980]
[Detection of heterozygous carriers of 21-hydroxylase deficiency-HLA typing and endocrinological study (author's transl)].
Saito N, Kuribayashi T, Shimozawa K, Nakagawa S, Tomita M. Horumon To Rinsho. 1980 Jul; 28(7):767-72.
[Study of the transmission of the 21-hydroxylase deficiency through the hormonal screening and the HLA-typing (author's transl)]. [Pediatr Med Chir. 1981]
[Study of the transmission of the 21-hydroxylase deficiency through the hormonal screening and the HLA-typing (author's transl)].
Bartolotta E, Migliori C, Gabrielli A, Oggiano N, Catassi C, Leone L. Pediatr Med Chir. 1981 Jul-Aug; 3(4):287-90.
Heterozygotes and cryptic patients in families of patients with congenital adrenal hyperplasia (21-hydroxylase deficiency). HLA and glyoxalase I typing and hormonal studies. [Horm Res. 1982]
Heterozygotes and cryptic patients in families of patients with congenital adrenal hyperplasia (21-hydroxylase deficiency). HLA and glyoxalase I typing and hormonal studies.
Petersen KE, Svejgaard A, Nielsen MD, Dissing J. Horm Res. 1982; 16(3):151-9.
Review Nonclassic adrenal hyperplasia due to 21-hydroxylase deficiency. [Pediatr Clin North Am. 1987]
Review Nonclassic adrenal hyperplasia due to 21-hydroxylase deficiency.
Drucker S, New MI. Pediatr Clin North Am. 1987 Aug; 34(4):1067-81.
Review Clinical and endocrinological aspects of 21-hydroxylase deficiency. [Ann N Y Acad Sci. 1985]
Review Clinical and endocrinological aspects of 21-hydroxylase deficiency.
New MI. Ann N Y Acad Sci. 1985; 458:1-27.

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Unusual heterozygotes of congenital adrenal hyperplasia due to 21-hydroxylase de...
Unusual heterozygotes of congenital adrenal hyperplasia due to 21-hydroxylase deficiency confirmed by HLA tissue typing.
Acta Endocrinol (Copenh). 1979 Nov ;92(3):542-6.

PubMed
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Unusual heterozygotes of congenital adrenal hyperplasia due to 21-hydroxylase deficiency confirmed by HLA tissue typing.

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