Musculoskeletal abnormalities and a novel genomic variant in an adult patient with CHILD syndrome: a case report

Autor:	Rafael Martínez, Camilo Peña, Manuela Quiroga-Carrillo, Camila Ordóñez-Reyes, Julián Rincón, Fernando Suárez-Obando, Sergio Nossa, María Fernanda García
Rok vydání:	2022
Předmět:	Adult Pediatrics Perinatology and Child Health Limb Deformities Congenital Humans Abnormalities Multiple Genetic Diseases X-Linked General Medicine Genomics Anatomy Ichthyosiform Erythroderma Congenital Genetics (clinical) Pathology and Forensic Medicine Musculoskeletal Abnormalities
Zdroj:	Clinical dysmorphology. 31(3)
ISSN:	1473-5717
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::867b21dc9c55cf96d4b5d0df94266cc5 https://pubmed.ncbi.nlm.nih.gov/35394469 Zobrazit plný text záznamu