ALSTROMS SYNDROME - FURTHER EVIDENCE OF AUTOSOMAL RECESSIVE INHERITANCE AND ENDOCRINOLOGIC DYSFUNCTION

被引：28

作者：

CHARLES, SJ

MOORE, AT

YATES, JRW

GREEN, T

CLARK, P

机构：

[1] ADDENBROOKES HOSP,DEPT CLIN GENET,CAMBRIDGE CB2 2QQ,ENGLAND

[2] ADDENBROOKES HOSP,DEPT DERMATOL,CAMBRIDGE CB2 2QQ,ENGLAND

[3] ADDENBROOKES HOSP,DEPT CLIN BIOCHEM,CAMBRIDGE CB2 2QQ,ENGLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1990年 / 27卷 / 09期

关键词：

D O I：

10.1136/jmg.27.9.590

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report a case of Alstrom's syndrome with hypothyroidism in addition to the cardinal features of blindness, deafness, obesity, and insulin dependent diabetes mellitus. The parents were first cousins once removed which strengthens the case for autosomal recessive inheritance.

引用

页码：590 / 592

页数：3

共 8 条

[1]

Alstrom C.H., 1959, ACTA PSYCH NEUROL SC, V129, P1

[2] ALSTROM SYNDROME - REPORT OF 3 CASES WITH FURTHER DELINEATION OF CLINICAL, PATHOPHYSIOLOGICAL, AND GENETIC ASPECTS OF DISORDER [J].