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Dandy-Walker malformation with postaxial polydactyly: Further evidence for autosomal recessive inheritance
(Wiley-lissNew YorkEUA, 1999)
Treatment of postaxial polydactyly with plantar plate and medial collateral ligament reconstruction after supernumerary excision: a case report
(SAGE, 2017)
Introduction: Polydactyly is the most common congenital foot anomaly and consists of partial or complete duplication of a
toe. Traditionally, surgical treatment has been amputation. There is little evidence when surgical ...
Unknown Syndrome: Abnormal Fades, Hypothyroidism, Postaxial Polydactyly, And Severe Retardation: A Third Patient
(BMJ Publishing Group, 1989)
A novel TBX5 missense mutation (V263M) in a family with atrial septal defects and postaxial hexodactyly
(ELSEVIER IRELAND LTD, 2008)
Background: Congenital heart diseases are the most frequent birth defects and are commonly associated with skeletal malformations. Mutations in the TBX5 gene, a T-box transcription factor located on chromosome 12q24.1, ...
Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly
(BMJ PUBLISHING GROUP, 2018)
Background Bardet-Biedl syndrome (BBS) is a ciliopathy with extensive phenotypic variability and genetic heterogeneity. We aimed to discover the gene mutated in a consanguineous kindred with multiple cases of a BBS phenotype. ...
Clinical findings in patients with GLI2 mutations - phenotypic variability
(WILEY-BLACKWELLMALDEN, 2012)
Mutations in the human GLI2 gene were first reported in association with defective anterior pituitary formation, panhypopituitarism, and forebrain anomalies represented by typical holoprosencephaly (HPE) and holoprosencephaly-like ...
Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly
(2018)
Background Bardet-Biedl syndrome (BBS) is a ciliopathy with extensive phenotypic variability and genetic heterogeneity. We aimed to discover the gene mutated in a consanguineous kindred with multiple cases of a BBS phenotype. ...