Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2)
Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2)
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Hoboken: Wiley Subscription Services, Inc., A Wiley Company
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Language
English
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Hoboken: Wiley Subscription Services, Inc., A Wiley Company
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Kallmann syndrome (KAL) combines hypogonadotropic hypogonadism and anosmia. Hypogonadism is due to Gonadotropin Releasing Hormone (GnRH) deficiency and anosmia is related to hypoplasia of the olfactory bulbs. Occasional symptoms include renal agenesis, bimanual synkinesia, cleft lip palate, dental agenesis. KAL is genetically heterogeneous and two...
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Full title
Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2)
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TN_cdi_proquest_miscellaneous_67341941
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_67341941
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ISSN
1059-7794
E-ISSN
1098-1004
DOI
10.1002/humu.9298
