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http://purl.uniprot.org/citations/24232061http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/24232061http://www.w3.org/2000/01/rdf-schema#comment"

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.

Results

Genome-wide array analysis identified a large deletion of KAL1 in both patients confirming the diagnosis of Kallmann syndrome. The absence of familial history has been explained by a somatic mosaicism identified in their mother.

Conclusion

The description of a hearing defect in 2 brothers with Kallmann syndrome allows asserting that deafness is part of the clinical features of this disease and must lead the physician to monitor the hearing function of Kallmann patients."xsd:string
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http://purl.uniprot.org/citations/24232061http://purl.uniprot.org/core/author"Bonnet C."xsd:string
http://purl.uniprot.org/citations/24232061http://purl.uniprot.org/core/author"David A."xsd:string
http://purl.uniprot.org/citations/24232061http://purl.uniprot.org/core/author"Gherbi S."xsd:string
http://purl.uniprot.org/citations/24232061http://purl.uniprot.org/core/author"Jonard L."xsd:string
http://purl.uniprot.org/citations/24232061http://purl.uniprot.org/core/author"Marlin S."xsd:string
http://purl.uniprot.org/citations/24232061http://purl.uniprot.org/core/author"Chantot-Bastaraud S."xsd:string
http://purl.uniprot.org/citations/24232061http://purl.uniprot.org/core/author"Couderc R."xsd:string
http://purl.uniprot.org/citations/24232061http://purl.uniprot.org/core/author"Denoyelle F."xsd:string
http://purl.uniprot.org/citations/24232061http://purl.uniprot.org/core/author"Garabedian E.N."xsd:string
http://purl.uniprot.org/citations/24232061http://purl.uniprot.org/core/author"Loundon N."xsd:string
http://purl.uniprot.org/citations/24232061http://purl.uniprot.org/core/author"Louha M."xsd:string
http://purl.uniprot.org/citations/24232061http://purl.uniprot.org/core/author"Portnoi M.F."xsd:string
http://purl.uniprot.org/citations/24232061http://purl.uniprot.org/core/date"2013"xsd:gYear
http://purl.uniprot.org/citations/24232061http://purl.uniprot.org/core/name"Otol Neurotol"xsd:string
http://purl.uniprot.org/citations/24232061http://purl.uniprot.org/core/pages"1590-1594"xsd:string
http://purl.uniprot.org/citations/24232061http://purl.uniprot.org/core/title"Discovery of a large deletion of KAL1 in 2 deaf brothers."xsd:string
http://purl.uniprot.org/citations/24232061http://purl.uniprot.org/core/volume"34"xsd:string
http://purl.uniprot.org/citations/24232061http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/24232061
http://purl.uniprot.org/citations/24232061http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/24232061
http://purl.uniprot.org/uniprot/#_A0A1B0RPQ5-mappedCitation-24232061http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/24232061
http://purl.uniprot.org/uniprot/#_P23352-mappedCitation-24232061http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/24232061
http://purl.uniprot.org/uniprot/A0A1B0RPQ5http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/24232061
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