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Phenotypic features of patients with congenital adrenal hypoplasia and glycerol kinase deficiency.

作者信息

Wise J E, Matalon R, Morgan A M, McCabe E R

出版信息

Am J Dis Child. 1987 Jul;141(7):744-7. doi: 10.1001/archpedi.1987.04460070046020.

DOI:10.1001/archpedi.1987.04460070046020
PMID:3035918
Abstract

Two unrelated boys with congenital adrenal hypoplasia and glycerol kinase deficiency were found to have similar features, including characteristic facies, 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.

摘要

相似文献

1
Phenotypic features of patients with congenital adrenal hypoplasia and glycerol kinase deficiency.
Am J Dis Child. 1987 Jul;141(7):744-7. doi: 10.1001/archpedi.1987.04460070046020.
2
Congenital adrenal hypoplasia and glycerol kinase deficiency.
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3
Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia.阿兰岛眼病（福修斯-埃里克森眼部白化病）与一名患有杜氏肌营养不良、甘油激酶缺乏症和先天性肾上腺发育不全患者的Xp21缺失。
Am J Med Genet. 1990 May;36(1):23-8. doi: 10.1002/ajmg.1320360106.
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Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome.人类X染色体短臂Xp21区域内甘油激酶缺乏症和先天性肾上腺发育不全的精细定位。
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[Case of adrenal insufficiency, nonspecific myopathy, psychomotor retardation and glyceroluria--glycerol kinase deficiency?].[肾上腺功能不全、非特异性肌病、精神运动发育迟缓及甘油尿症病例——甘油激酶缺乏症？]
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Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia.X连锁甘油激酶缺乏症与X连锁先天性肾上腺发育不全的一致性。
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Deletion on the X chromosome detected by direct DNA analysis in one of two unrelated boys with glycerol kinase deficiency, adrenal hypoplasia, and Duchenne muscular dystrophy.
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Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion.
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Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasia.伴有甘油激酶缺乏和先天性肾上腺发育不全的Xp21.2家族性缺失。
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Dysmorphic features in patients with complex glycerol kinase deficiency.复杂型甘油激酶缺乏症患者的畸形特征。
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引用本文的文献

1
Isolated and contiguous glycerol kinase gene disorders: a review.孤立性和连续性甘油激酶基因疾病：综述
J Inherit Metab Dis. 2000 Sep;23(6):529-47. doi: 10.1023/a:1005660826652.
2
Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.三个孤立性甘油激酶缺乏症家族中甘油激酶基因的临床异质性和新突变
J Med Genet. 1998 Aug;35(8):650-6. doi: 10.1136/jmg.35.8.650.
3
Mutations and phenotype in isolated glycerol kinase deficiency.孤立性甘油激酶缺乏症中的突变与表型
Am J Hum Genet. 1996 Jun;58(6):1205-11.
4
Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene.复杂型甘油激酶缺乏症患者的肌病是由于肌营养不良蛋白基因的3'端缺失所致。
Am J Hum Genet. 1988 Aug;43(2):126-30.