一名患叶状全前脑畸形的先证者存在SHH基因Ile111Asp突变，其母亲仅有一颗孤立的上颌中切牙。 - Suppr

SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor.

作者信息

El-Jaick Kenia Balbi, Brunoni Decio, Castilla Eduardo E, Moreira Miguel Angelo, Orioli Iêda Mario

出版信息

Am J Med Genet A. 2005 Aug 1;136A(4):345. doi: 10.1002/ajmg.a.30624.

DOI:10.1002/ajmg.a.30624

PMID:15942952

Abstract

摘要

相似文献

SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor.

Am J Med Genet A. 2005 Aug 1;136A(4):345. doi: 10.1002/ajmg.a.30624.

Single median maxillary central incisor, hypophyseal tumor, and SHH mutation.

Am J Med Genet A. 2005 Aug 1;136A(4):346-7. doi: 10.1002/ajmg.a.30625.

SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature.

Am J Med Genet. 2001 Jul 22;102(1):1-10. doi: 10.1002/1096-8628(20010722)102:1<1::aid-ajmg1336>3.0.co;2-u.

Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog.

Am J Med Genet A. 2004 May 15;127A(1):93-95. doi: 10.1002/ajmg.a.20685.

Solitary median maxillary central incisor, short stature, choanal atresia/midnasal stenosis (SMMCI) syndrome.

Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1997 Dec;84(6):651-62. doi: 10.1016/s1079-2104(97)90368-1.

Solitary median maxillary central incisor (SMMCI) syndrome.

Orphanet J Rare Dis. 2006 Apr 9;1:12. doi: 10.1186/1750-1172-1-12.

Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation.

Eur J Pediatr. 2004 Jul;163(7):347-52. doi: 10.1007/s00431-004-1459-0. Epub 2004 Apr 24.

Skewed sex ratios in familial holoprosencephaly and in people with isolated single maxillary central incisor.

J Med Genet. 1999 Dec;36(12):924-6.

Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability.

Am J Med Genet A. 2003 Mar 1;117A(2):112-5. doi: 10.1002/ajmg.a.10163.

Single maxillary central incisor, holoprosencephaly, and holoprosencephaly-like phenotype.

Am J Med Genet A. 2006 Dec 1;140(23):2594-7. doi: 10.1002/ajmg.a.31379.

引用本文的文献

New and Known Variants in a Series of Latin American Patients with Holoprosencephaly.

Mol Syndromol. 2021 Jul;12(4):219-233. doi: 10.1159/000515044. Epub 2021 Jun 15.

Molecular analysis of holoprosencephaly in South America.

Genet Mol Biol. 2014 Mar;37(1 Suppl):250-62. doi: 10.1590/s1415-47572014000200011.

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.

Eur J Hum Genet. 2010 Sep;18(9):999-1005. doi: 10.1038/ejhg.2010.70. Epub 2010 Jun 9.

The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.

Hum Mutat. 2009 Oct;30(10):E921-35. doi: 10.1002/humu.21090.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor.

作者信息

出版信息

相似文献

引用本文的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

相似文献

引用本文的文献