Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in

Autor:	Lois J, Starr, Mark E, Lindsay, Deborah, Perry, Gregory, Gheewalla, Paul A, VanderLaan, Adnan, Majid, Charlie, Strange, George-Claudiu, Costea, Adrian, Lungu, Angela E, Lin
Rok vydání:	2022
Předmět:	Male Gain of Function Mutation Humans Facies Constriction Pathologic Hand Deformities Congenital Smad4 Protein
Zdroj:	Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. 25(6)
ISSN:	1615-5742
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::288be07800da3bc193853cd253b522e9 https://pubmed.ncbi.nlm.nih.gov/36120950 Zobrazit plný text záznamu