Abstract
Olfactogenital dysplasia, X-linked hypogonadotrophic hypogonadism A syndrome of: Congenital anosmia: congenital absence or hypoplasia of primary receptor neurones Hypogonadotrophic hypogonadism Clinically, there may also be mirror movements Brain imaging may show arhinencephaly. This is a clinically and genetically heterogeneous syndrome. Mutations in five genes have been demonstrated to date, but in less than 30% of patients: KAL1 (X-linked recessive form), FGFR1 and FGF8 (autosomal dominant with incomplete penetrance), and PROKR2 and PROK2 (heterozygous, homozygous, and compound heterozygous states).
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© 2011 Springer-Verlag London Limited
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Larner, A.J., Coles, A.J., Scolding, N.J., Barker, R.A. (2011). K. In: A-Z of Neurological Practice. Springer, London. https://doi.org/10.1007/978-1-84882-994-7_11
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DOI: https://doi.org/10.1007/978-1-84882-994-7_11
Publisher Name: Springer, London
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