Phenotypic spectrum of -related disorders: a systematic review.

FGF10, as an FGFR2b-specific ligand, plays a crucial role during cell proliferation, multi-organ development, and tissue injury repair. The developmental importance of has been emphasized by the identification of abnormalities in human congenital disorders affecting different organs and systems. Single-nucleotide variants in or -involving copy-number variant deletions have been reported in families with lacrimo-auriculo-dento-digital syndrome, aplasia of the lacrimal and salivary glands, or lethal lung developmental disorders. Abnormalities involving have also been implicated in cleft lip and palate, myopia, or congenital heart disease. However, the exact developmental role of and large phenotypic heterogeneity associated with disruption remain incompletely understood. Here, we review human and animal studies and summarize the data on mechanism of action, expression, multi-organ function, as well as its variants and their usefulness for clinicians and researchers.