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Article

X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boy.

Clinical dysmorphology - 1 Apr 2016

Mikat Barbara, Roll Claudia, Schindler Detlev, Gembruch Ulrich, Klempert Iris, Buiting Karin, Bramswig Nuria C, Wieczorek Dagmar

Abstract excerpt

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Share to Hydrocephalus
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Share to Fanconi Anemia Complementation Group Proteins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26683739
DOI: 10.1097/MCD.0000000000000111

Genes

FANCB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

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X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boy.PMID 26683739Read ↗

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Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association.Semantic proximity Read ↗

X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations.Semantic proximity Read ↗

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Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome.Semantic proximity Read ↗

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