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Article

Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms.

Clinical genetics - 1 Nov 2021

da Rocha Letícia Alves, Pires Lucas Vieira Lacerda, Yamamoto Guilherme Lopes, Magliocco Ceroni José Ricardo, Honjo Rachel Sayuri, de Novaes França Bisneto Edgard, Oliveira Luiz Antônio Nunes, Rosenberg Carla, Krepischi Ana Cristina Victorino, Passos-Bueno Maria Rita, Kim Chong Ae, Bertola Débora Romeo

Abstract excerpt

Congenital limb deficiency (CLD), one of the most common congenital anomalies, is characterized by hypoplasia/aplasia of one or more limb bones and can be isolated or syndromic. The etiology in CLD is heterogeneous, including environmental and genetic factors. A fraction remains with no etiological factor identified. We report the study of 44 Brazilian individuals presenting isolated or syndromic CLD, mainly with...

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PMID: 34341987
DOI: 10.1111/cge.14041

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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