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Article

Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings.

European journal of human genetics : EJHG - 1 Sept 2018

Schulz Solveig, Mensah Martin A, de Vries Heike, Fröber Rosemarie, Romeike Bernd, Schneider Uwe, Borte Stephan, Schindler Detlev, Kentouche Karim

Abstract excerpt

Recently, variants in DONSON have been reported to cause different disorders of the microcephalic primordial dwarfism spectrum. Using whole-exome sequencing, we identified two novel, compound heterozygous DONSON variants in a pair of siblings, one of whom was previously diagnosed with Fanconi anemia. This occurred because the present cases exhibited clinical findings in addition to those of the microcephalic...

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Identifiers

PMID: 29760432
DOI: 10.1038/s41431-018-0128-0
PMCID: PMC6117362

Genes

DONSON

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Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings.PMID 29760432Read ↗

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