Article
Discovery of a large deletion of KAL1 in 2 deaf brothers.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology - 1 Dec 2013
Marlin Sandrine, Chantot-Bastaraud Sandra, David Albert, Loundon Natalie, Jonard Laurence, Portnoï Marie-France, Bonnet Crystel, Louha Malek, Gherbi Souad, Garabedian Eréa Noël, Couderc Remy, Denoyelle Françoise
Abstract excerpt
OBJECTIVES: Kallmann syndrome (KS) usually combines an anosmia and a hypogonadotrophic hypogonadism. Hearing impairment was described in a few cases of KS. Our objective is to describe an unusual presentation of KS in 2 cases and to explore the pattern of inheritance in this family. PATIENTS: Two brothers presented with a sensorineural hearing impairment associated with cryptorchidism and abnormal movements....
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