伴有染色体断裂及其他异常的颅缝早闭-小头畸形是由截短型MCPH1突变引起的，与早熟染色体凝聚综合征和原发性常染色体隐性小头畸形1型等位。 - Suppr

Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1.

作者信息

Farooq Muhammad, Baig Shahid, Tommerup Niels, Kjaer Klaus W

机构信息

Department of Cellular and Molecular Medicine, Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark.

出版信息

Am J Med Genet A. 2010 Feb;152A(2):495-7. doi: 10.1002/ajmg.a.33234.

DOI:10.1002/ajmg.a.33234

PMID:20101680

Abstract

摘要

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Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1.

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Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1.

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Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1.

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