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Clinical features and possible founder mutation of the 8bp duplication mutation in the SLC4A11 gene causing corneal dystrophy and perceptive deafness in three South American families

par Romero, Pablo P.T.;Donoso, Rodrigo;López, Pamela;Miranda, Ana;Rodríguez, Leandro;Chrzanowsky, Dominique;Asenjo, Maria M.S.;Burgos, Gonzalo;Villegas, Pablo;Désir, Julie ;Moya, Graciela;Herrera, Luisa L.M.
Référence Ophthalmic genetics, 40, 2, page (91-98)
Publication Publié, 2019-03

Article révisé par les pairs

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Titre:	Clinical features and possible founder mutation of the 8bp duplication mutation in the SLC4A11 gene causing corneal dystrophy and perceptive deafness in three South American families
Auteur:	Romero, Pablo P.T.; Donoso, Rodrigo; López, Pamela; Miranda, Ana; Rodríguez, Leandro; Chrzanowsky, Dominique; Asenjo, Maria M.S.; Burgos, Gonzalo; Villegas, Pablo; Désir, Julie; Moya, Graciela; Herrera, Luisa L.M.
Informations sur la publication:	Ophthalmic genetics, 40, 2, page (91-98)
Statut de publication:	Publié, 2019-03
Sujet CREF:	Ophtalmologie
	Pédiatrie
	Génétique clinique
Mots-clés:	CDPD
	corneal dystrophy
	Endothelium
	Harboyan
	SLC4A11 gene
Note générale:	SCOPUS: ar.j
	DecretOANoAutActif
Langue:	Anglais
Identificateurs:	urn:issn:1381-6810
	info:doi/10.1080/13816810.2019.1571615
	info:scp/85065409469
	info:pmid/30856043