Article
Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations.
Journal of medical genetics - 1 Nov 2012
Legendre Marine, Gonzales Marie, Goudefroye Géraldine, Bilan Frédéric, Parisot Pauline, Perez Marie-José, Bonnière Maryse, Bessières Bettina, Martinovic Jelena, Delezoide Anne-Lise, Jossic Frédérique, Fallet-Bianco Catherine, Bucourt Martine, Tantau Julia, Loget Philippe, Loeuillet Laurence, Laurent Nicole, Leroy Brigitte, Salhi Houria, Bigi Nicole, Rouleau Caroline, Guimiot Fabien, Quélin Chloé, Bazin Anne, Alby Caroline, Ichkou Amale, Gesny Roselyne, Kitzis Alain, Ville Yves, Lyonnet Stanislas, Razavi Ferechte, Gilbert-Dussardier Brigitte, Vekemans Michel, Attié-Bitach Tania
Abstract excerpt
BACKGROUND: CHARGE syndrome is a rare, usually sporadic disorder of multiple congenital anomalies ascribed to a CHD7 gene mutation in 60% of cases. Although the syndrome is well characterised in children, only one series of 10 fetuses with CHARGE syndrome has been reported to date. Therefore, we performed a detailed clinicopathological survey in our series of fetuses with CHD7 mutations, now extended to 40 cases....
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