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Article

Partial penetrance and phenotypic variability of aplasia of lacrimal and salivary glands caused by a novel FGF10 donor splice-site mutation.

American journal of medical genetics. Part A - 1 Nov 2023

Freund Ofek, Elsana Baker, Agam Nadav, Jean Matan M, Safran Amit, Poleg Tomer, Roguin Nir, Gradstein Libe, Tsumi Erez, Birk Ohad S

Abstract excerpt

Thirteen affected individuals of six generations of a single kindred presented with epiphora evident from infancy. Physical exam and Schirmer test revealed variable expression of tear deficiency, congenital punctal atresia, and dry mouth with multiple caries, without concomitant abnormalities of the ears or digits, commensurate with a diagnosis of aplasia of the lacrimal and salivary glands (ALSG). Reconstruction...

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Identifiers

PMID: 37615310
DOI: 10.1002/ajmg.a.63359

Genes

FGF10

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Partial penetrance and phenotypic variability of aplasia of lacrimal and salivary glands caused by a novel FGF10 donor splice-site mutation.PMID 37615310Read ↗

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