Complete situs inversus and broad thumbs and big toes with postaxial polydactyly.
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منابع مشابه
Complete situs inversus and broad thumbs and big toes with postaxial polydactyly.
A healthy, non-consanguineous couple had a son with complete situs inversus viscerum (including dextrocardia but without other cardiac defects), broad thumbs and big toes, postaxial polydactyly, average intelligence and length proportion of the extremities, and a normal face. The common cause of these defects may have a role in the origin of sidedness and symmetry in morphogenesis.
متن کاملA novel frameshift mutation of the GLI3 gene in a family with broad thumbs with/without big toes, postaxial polydactyly and variable syndactyly of the hands/feet.
To the Editor : Mutations of the GLI3 gene lead to a wide variety of phenotypes such as Greig cephalopolysyndactyly (GCPS), Pallister–Hall syndrome (PHS), postaxial polydactyly (PAP) types A/B, and preaxial polysyndactyly (PPD) type IV (1–7). The main clinical features of these phenotypes are summarized in Table 1. The GLI3 protein may be divided into three parts (Fig. 1). The part towards the ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1997
ISSN: 1468-6244
DOI: 10.1136/jmg.34.12.1033