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Congenital Hypogonadotropic Hypogonadism with Anosmia and Gorlin Features Caused by a PTCH1 Mutation Reveals a New Candidate Gene for Kallmann Syndrome.
Neuroendocrinology. 2021;111(1-2):99-114. doi: 10.1159/000506640. Epub 2020 Feb 20.
Neuroendocrinology. 2021.
PMID: 32074614
A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features.
Poirsier-Violle C, Abourra A, Baumann C, Perrin L, Capri Y, Mignot C, Passemard S, Drunat S, Verloes A.
Poirsier-Violle C, et al.
Eur J Med Genet. 2013 Apr;56(4):226-8. doi: 10.1016/j.ejmg.2012.12.005. Epub 2013 Jan 19.
Eur J Med Genet. 2013.
PMID: 23337768
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