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Article

Endocrinological features of a patient with 14q microdeletion and Dubowitz phenotype.

Molecular genetics & genomic medicine - 1 May 2021

Amodeo Maria Elisa, Inzaghi Elena, Deodati Annalisa, Cianfarani Stefano

Abstract excerpt

BACKGROUND: Dubowitz syndrome (DS) is a complex and rare condition characterized by postnatal growth retardation, microcephaly, short stature, mild developmental delay, facial dysmorphism, skin eruption and bone marrow failure. Though approximately 200 cases have been described so far, no specific genetic analysis, laboratory tests or radiological exams are available to confirm the diagnosis which is still based...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33788412
DOI: 10.1002/mgg3.1644
PMCID: PMC8172207

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