Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Wieacker-Wolff syndrome with associated cleft palate in a female case.

American journal of medical genetics. Part A - 1 Jan 2018

Godfrey Natalie D, Dowlatshahi Samandar, Martin Madelena M, Rothkopf Douglas M

Abstract excerpt

Wieacker-Wolff syndrome is a rare congenital syndrome with few reported cases in the current literature. It is traditionally described in males as an X-linked recessive disorder associated with congenital contractures of the feet, progressive neurologic muscular atrophy, and intellectual delay caused by ZC4H2 mutations. The purpose of this paper is to present a female individual with a classic phenotype and cleft...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Ophthalmoplegia
Share to Apraxias
Share to Chromosomes, Human, X

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cleft Palate

Share to Contracture

Share to Facies

Share to Genetic Diseases, X-Linked

Share to Muscular Atrophy

Source

Identifiers

PMID: 29150902
DOI: 10.1002/ajmg.a.38527

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Wieacker-Wolff syndrome with associated cleft palate in a female case.PMID 29150902Read ↗

Severe X-linked chondrodysplasia punctata in nine new female fetuses.Semantic proximity Read ↗

A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene mutation: a clinical presentation of the Wieacker-Wolff syndrome.Semantic proximity Read ↗

Genotype-Phenotype Correlations and Sex Differences in ZC4H2-Associated Rare Disorder.Semantic proximity Read ↗

Loss of Protein Function Causing Severe Phenotypes of Female-Restricted Wieacker Wolff Syndrome due to a Novel Nonsense Mutation in the ZC4H2 Gene.Semantic proximity Read ↗

A novel ZC4H2 variant in a female with severe respiratory complications.Semantic proximity Read ↗

Clinical and genetic characteristics for the Urofacial Syndrome (UFS).Semantic proximity Read ↗

Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome.Semantic proximity Read ↗

Genitourinary anomalies in Mowat-Wilson syndrome with deletion/mutation in the zinc finger homeo box 1B gene (ZFHX1B). Report of three Italian cases with hypospadias and review.Semantic proximity Read ↗

Fryns syndrome: a review of the phenotype and diagnostic guidelines.Semantic proximity Read ↗

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.Semantic proximity Read ↗

Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes.Semantic proximity Read ↗

Xq26.3 microdeletion in a male with Wildervanck Syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.