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

A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly.

American journal of medical genetics. Part A - 1 Jan 2016

Marcadier Julien L, Mears Alan J, Woods Elizabeth A, Fisher Jamie, Airheart Cory, Qin Wen, Beaulieu Chandree L, Dyment David A, Innes A Micheil, Curry Cynthia J

Abstract excerpt

PDAC (also termed Matthew Wood) syndrome is a rare, autosomal recessive disorder characterized by pulmonary hypoplasia/aplasia, diaphragmatic defects, bilateral anophthalmia, and cardiac malformations. The disorder is caused by mutations in STRA6, an important regulator of vitamin A and retinoic acid metabolism. We describe six cases from four families of Hmong ancestry, seen over a 30 years period in California....

Read the complete abstract on PubMed

Topics

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

Share to Anophthalmos
Share to California

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Contracture

Share to Gestational Age

Share to Hand Deformities, Congenital

Share to Heart Defects, Congenital

Share to Lung Diseases

Share to Microphthalmos

Source

Identifiers

PMID: 26373900
DOI: 10.1002/ajmg.a.37389

Genes

STRA6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly.PMID 26373900Read ↗

Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations--what are the minimal criteria?Semantic proximity Read ↗

Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.Semantic proximity Read ↗

The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew‐Wood syndrome): Report of eight cases including a living child and further evidence for autosomal recessive inheritanceSemantic proximity Read ↗

A founder variant expands the phenotype of WNT7B-related PDAC syndrome.Semantic proximity Read ↗

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.Semantic proximity Read ↗

Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures.Semantic proximity Read ↗

GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrumSemantic proximity Read ↗

Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6.Semantic proximity Read ↗

Expanding the phenotype of STRA6-related disorder to include left ventricular non-compaction.Semantic proximity Read ↗

Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.Semantic proximity Read ↗

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.Semantic proximity Read ↗

Congenital hypothyroidism, cardiac defects, and pancreatic agenesis in an infant with GATA6 mutation.Semantic proximity Read ↗

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