Autor:	Shagufta, Shaikh, Suresh K G, Shettigar, Santosh, Kumar, Surita, Kantharia, Jagannath, Kurva, Susan, Cherian
Rok vydání:	2019
Předmět:	Male Consanguinity Child Preschool Siblings Mutation Humans Muscle Hypotonia Dwarfism Female Child Cullin Proteins Prognosis Spine
Zdroj:	Journal of genetics. 98
ISSN:	0973-7731
Popis:	This study evaluates a family with two siblings having severe growth retardation and facial dysmorphism, born to consanguineous normal healthy parents. Affymetrix CytoScan 750K microarray showed a 34-Mb pericentric homozygous region on chromosome 6 for both siblings.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::7487ee91fad7a4713fb8d2e02b19d443 https://pubmed.ncbi.nlm.nih.gov/30945686 Zobrazit plný text záznamu Full text from SpringerLink