Possible new autosomal recessive syndrome of congenital lymphoedema, nail dystrophy and esotropia in a Saudi family

Autor:	Y, Fatinni, A, Asindi, Y, Al Falki, A, Al Harthi, S, Al Fifi, S, Al-Daama
Rok vydání:	2001
Předmět:	Chromosome Aberrations Consanguinity Esotropia Saudi Arabia Humans Nails Malformed Chromosome Disorders Female Lymphedema Child
Zdroj:	Acta paediatrica (Oslo, Norway : 1992). 90(2)
ISSN:	0803-5253
Popis:	This paper presents a family case of two brothers and two sisters with congenital lower limb lymphoedema, nail dystrophy, and with esotropia in two of them. They are offspring of healthy parents who are first cousins. This combination of congenital lymphoedema, nail dystrophy and esotropia in this sibship differs from other reported cases of congenital lymphoedema and most likely constitutes a previously unrecognized autosomal recessive syndrome.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::334a5442c229731bcc10bfa97581ca31 https://pubmed.ncbi.nlm.nih.gov/11236043 Zobrazit plný text záznamu Plný text