SUN-064 Diversity of Endocrine Function in Patients with CHARGE Association

Context: CHARGE association consists of congenital malformation of Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies and/or deafness. It is often caused by CHD7 gene mutation, which also one of the causative gene for Kallmann syndrome. The en...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Endocr Soc
Prif Awduron: Uehara, Erika, Nagata, Tomohiro, Terashita, Shintaro, Matsumoto, Masaaki, Yamaguchi, Tomoe, Ota, Tomoko, Yoshii, Keisuke, Naiki, Yasuhiro, Horikawa, Reiko
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Oxford University Press 2020
Pynciau:
Pediatric Endocrinology
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7209718/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.891
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