[Cohen's syndrome: non-causal association with vascular rings]

Autor:	C, Pérez-Caballero Macarrón, C, Lozano Giménez, A, Quintana Castilla, J M, Aparicio Meix
Rok vydání:	2000
Předmět:	Male Craniofacial Dysostosis Genes Recessive Syndrome Child Preschool Intellectual Disability Microcephaly Blood Vessels Humans Muscle Hypotonia Abnormalities Multiple Female Obesity Child
Zdroj:	Anales espanoles de pediatria. 52(3)
ISSN:	0302-4342
Popis:	Cohen syndrome is an autosomal recessive disorder characterized by hypotonia, mental retardation, microcephalia, typical craniofacial features, myopia and chorioretinal dystrophy. The responsible gene has been mapped to chromosome 8q 22 (COH 1). Since it was described more than 100 patients have been reported. However, none of them has been associated with vascular rings. Our hospital has studied eight pediatric cases and 25% of them were related with vascular rings.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::85817a8fd3f52293de42ada26d38f95a https://pubmed.ncbi.nlm.nih.gov/11003912 Zobrazit plný text záznamu