期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 140A, 期 23, 页码 2584-2586出版社
WILEY-LISS
DOI: 10.1002/ajmg.a.31369
关键词
missense mutations; extracellular loops; intracellular loops; delayed neuropsychological development; cleft lip-palate
We report five Brazilian probands with PATCHED (PTCH) mutations and highly variable phenotypes with holoprosencephaly in four cases and holoprosencephaly-like facial features with a normal MRI in a fifth case. Three of our mutations were novel: Ala443Gly, Val751Gly, and Val908Gly. Two patients had the same mutation (Val908Gly), but were phenotypically different: alobar holoprosencephaly, absent nasal septum, and midline cleft lip-palate in one case, and lobar holoprosencephaly, macrocephaly, hypertelorism, clefting of the nose, severe rnicrophthalmia, and a single maxillary central incisor in the other. One of our patients had a Thr1052Met mutation, holoprosencephaly-like facial features, and a normal MRI Ming et al. [(2002); Hum Genet 110:297-301] reported an identical mutation, but with alobar holoprosencephaly. (c) 2006 Wiley-Liss, Inc.
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