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Silent microcephaly: a distinct autosomal dominant trait.

作者信息

Ramírez M L, Rivas F, Cantú J M

出版信息

Clin Genet. 1983 Apr;23(4):281-6. doi: 10.1111/j.1399-0004.1983.tb01877.x.

DOI:10.1111/j.1399-0004.1983.tb01877.x
PMID:6851218
Abstract

Thirteen patients from three unrelated families were found to have microcephaly, without any neurological or dysmorphic manifestations. Autosomal dominant inheritance is concluded since the trait was transmitted directly in all three families, including one male-to-male instance. The recognition of this uncomplicated form of microcephaly as a Mendelian trait further extends its etiological heterogeneity.

摘要

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引用本文的文献

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PDCD6IP, encoding a regulator of the ESCRT complex, is mutated in microcephaly.编码内吞体分选转运复合体(ESCRT)调节剂的PDCD6IP在小头畸形中发生突变。
Clin Genet. 2020 Jul;98(1):80-85. doi: 10.1111/cge.13756. Epub 2020 May 17.
2
The etiologic patterns in microcephaly with mental retardation.小头畸形伴智力障碍的病因模式。
Indian J Psychiatry. 1995 Apr;37(2):70-80.
3
Microcephaly and congenital nephrotic syndrome owing to diffuse mesangial sclerosis: an autosomal recessive syndrome.由于弥漫性系膜硬化导致的小头畸形和先天性肾病综合征:一种常染色体隐性综合征。
J Med Genet. 1994 Feb;31(2):121-5. doi: 10.1136/jmg.31.2.121.
4
Autosomal dominant isolated ('uncomplicated') microcephaly.常染色体显性遗传孤立性(“单纯性”)小头畸形。
J Med Genet. 1988 Nov;25(11):750-3. doi: 10.1136/jmg.25.11.750.