Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.

doi:10.1016/j.ajhg.2013.12.017

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Article

Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.

American journal of human genetics - 6 Feb 2014

Humbert Camille, Silbermann Flora, Morar Bharti, Parisot Mélanie, Zarhrate Mohammed, Masson Cécile, Tores Frédéric, Blanchet Patricia, Perez Marie-José, Petrov Yuliya, Khau Van Kien Philippe, Roume Joelle, Leroy Brigitte, Gribouval Olivier, Kalaydjieva Luba, Heidet Laurence, Salomon Rémi, Antignac Corinne, Benmerah Alexandre, Saunier Sophie, Jeanpierre Cécile

Abstract excerpt

Renal hypodysplasia (RHD) is a heterogeneous condition encompassing a spectrum of kidney development defects including renal agenesis, hypoplasia, and (cystic) dysplasia. Heterozygous mutations of several genes have been identified as genetic causes of RHD with various severity. However, these genes and mutations are not associated with bilateral renal agenesis, except for RET mutations, which could be involved...

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Identifiers

PMID: 24439109
DOI: 10.1016/j.ajhg.2013.12.017
PMCID: PMC3928807

Genes

ITGA8
RHD
RET

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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