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Article

Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson.

Clinical dysmorphology - 1 Jul 2012

Palka Chiara, Antonucci Ivana, Alfonsi Melissa, Bedeschi Maria Francesca, Mohn Angelika, Lalatta Faustina, Chiarelli Francesco, Palka Giandomenico, Stuppia Liborio

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22406540
DOI: 10.1097/MCD.0b013e328350af23

Genes

IHH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

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Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson.PMID 22406540Read ↗

Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family.Semantic proximity Read ↗

Answering a century old riddle: brachydactyly type A1.Semantic proximity Read ↗

Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1.Semantic proximity Read ↗

A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.Semantic proximity Read ↗

Brachydactyly A1: new relatives for old families?Semantic proximity Read ↗

A novel variant of IHH in a Chinese family with brachydactyly type 1Semantic proximity Read ↗

[Clinical investigation of a family with brachydactyly type A1 and the identification of the disease gene].Semantic proximity Read ↗

A novel variant of IHH in a Chinese family with brachydactyly type 1.Semantic proximity Read ↗

Brachydactyly type A1 with short humerus and associated skeletal features.Semantic proximity Read ↗

A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature.Semantic proximity Read ↗

Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations.Semantic proximity Read ↗

A large duplication involving the IHH locus mimics acrocallosal syndrome.Semantic proximity Read ↗

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