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Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 10/2015, Volume 23, Issue 11
Journal Article
PLoS ONE, ISSN 1932-6203, 11/2015, Volume 10, Issue 11
CHARGE syndrome is a variable, multiple congenital malformation syndrome. Patients with CHARGE syndrome have frequent infections that are presumed to be due to... 
Journal Article
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, ISSN 1552-4841, 12/2014, Volume 164A, Issue 12, pp. 3003 - 3009
Since 2004, CHD7 mutations have been a known cause of CHARGE (Coloboma, Heart defects, Atresia of choane, Retardation of growth and development, Genital... 
Journal Article
Journal of Clinical Endocrinology and Metabolism, ISSN 0021-972X, 05/2012, Volume 97, Issue 5, pp. E858 - E862
Context: Kallmann syndrome (KS) and CHARGE syndrome are rare heritable disorders in which anosmia and hypogonadotropic hypogonadism co-occur. KS is genetically... 
Journal Article
Nature Genetics, ISSN 1061-4036, 2012, Volume 44, Issue 4, pp. 440 - 444, S1-2
Journal Article
Genome Biology, ISSN 1474-7596, 11/2016, Volume 17, Issue 1, p. 243
Journal Article
Nature Genetics, ISSN 1061-4036, 2010, Volume 42, Issue 2, pp. 160 - 164
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2019, Volume 179, Issue 8, pp. 1459 - 1465
Background Growth retardation is one of the main hallmarks of CHARGE syndrome (CS), yet little is known about the body proportions of these children. Knowledge... 
CHARGE syndrome | body proportions | growth | photogrammetric anthropometry | ENDOCRINE | GENETICS & HEREDITY | OVERLAP | UPDATE | MUTATIONS | Somatotropin | Analysis | Children | Body height | Growth rate | Tibia | Anthropometry | Growth hormone | Original
Journal Article