Article

Disorders of sex development in Wolf-Hirschhorn syndrome: a genotype-phenotype correlation and MSX1 as candidate gene

2021-02-02

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Wolf-Hirschhorn (WHS) is a set of congenital physical anomalies and mental retardation associated with a partial deletion of the short arm of chromosome 4.To establish a genotype-phenotype correlation; we carried out a molecular cytogenetic analysis on two Tunisian WHS patients. Patient 1 was a boy of one-year-old, presented a typical WHS phenotype while patient...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 7a189a3a-7bae-5981-b892-06cc527a5e0b
DOI: 10.21203/rs.3.rs-137290/v2

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Disorders of sex development in Wolf-Hirschhorn syndrome: a genotype-phenotype correlation and MSX1 as candidate geneDOI 10.21203/rs.3.rs-137290/v2Read

Wolf-Hirschhorn syndrome (WHS) - literature review on the features of the syndrome.Semantic proximity Read

Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision.Semantic proximity Read

Clinical and genetic characterization of ten Egyptian patients with Wolf-Hirschhorn syndrome and review of literature.Semantic proximity Read

Clinical features in adult patient with Wolf-Hirschhorn syndrome.Semantic proximity Read

"Tandem" duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype.Semantic proximity Read

Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.Semantic proximity Read

Wolf-Hirschhorn (4p-) syndrome.Semantic proximity Read

Wolf-Hirschhorn syndrome: A case series from India.Semantic proximity Read

[Wolf-Hirschhorn syndrome. Description of a Spanish cohort of 51 cases and a literature review].Semantic proximity Read

Ocular manifestations in Wolf-Hirschhorn syndrome.Semantic proximity Read

A rare subtelomeric deletion syndrome: Wolf Hirschhorn syndrome.Semantic proximity Read

Wolf-Hirschhorn Syndrome-associated genes are enriched in motile neural crest and affect craniofacial development in <i>Xenopus laevis</i>Semantic proximity Read