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Brain (London, England : 1878), ISSN 1460-2156, 2013, Volume 136, Issue 2, pp. 522 - 535
Journal Article
Journal Article
Journal of medical genetics, ISSN 0022-2593, 2011, Volume 48, Issue 5, pp. 334 - 342
Journal Article
The Journal of clinical investigation, ISSN 0021-9738, 2015, Volume 125, Issue 6, pp. 2413 - 2428
Journal Article
Frontiers in genetics, ISSN 1664-8021, 2017, Volume 8, p. 210
We report a Japanese female patient presenting with classic features of CHARGE syndrome, including choanal atresia, growth and development retardation, ear malformations, genital anomalies, multiple... 
CHARGE syndrome | KMT2D | Kabuki syndrome | Phenotypic overlap | CHD7 | MLL2 | CHD7 MUTATION | ANOMALIES | PHENOTYPIC SPECTRUM | DEFICIENCY | COLOBOMA | CHOANAL ATRESIA | phenotypic overlap | GENETICS & HEREDITY | OVERLAP | KALLMANN-SYNDROME | PATIENT | Genetic research | Health aspects | Genetic aspects
Journal Article
EMBO reports, ISSN 1469-3178, 2017, Volume 19, Issue 2, pp. 269 - 289
Journal Article
American journal of human genetics, ISSN 0002-9297, 2013, Volume 92, Issue 5, pp. 707 - 724
Journal Article
Medicine (United States), ISSN 0025-7974, 09/2017, Volume 96, Issue 35, p. e7974
Rational: Kallmann syndrome (KS) is a genetic gonadotropin-releasing hormone deficiency associated with hyposmia or anosmia and characterized by various modes of inheritance. Patient concerns... 
prokineticin-receptor 2 | Kallmann syndrome | exome sequencing | MEDICINE, GENERAL & INTERNAL | PROKINETICIN-2 | GENES | DIGENIC MUTATIONS | IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM |