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T1  - Kallmann syndrome in a patient with Weiss-Kruszka syndrome and a de novo deletion in 9q31.2 
SN  -  /  
UR  - http://hdl.handle.net/10138/332769 
T3  -  
A1  - Iivonen, Anna-Pauliina; Kärkinen, Juho; Yellapragada, Venkatram; Sidoroff, Virpi; Almusa, Henrikki; Vaaralahti, Kirsi; Raivio, Taneli 
A2  -  
PB  -  
Y1  - 2021 
LA  - eng 
AB  - Patients with deletions on chromosome 9q31.2 may exhibit delayed puberty, craniofacial phenotype including cleft lip/palate, and olfactory bulb hypoplasia. We report a patient with congenital HH with anosmia (Kallmann syndrome, KS) and a de novo 2.38 Mb heterozygous deletion in 9q31.2. The deletion breakpoints (determined with wholegenome linked-read sequencing) were in the FKTN gene (9:108,331,353) and in a non-coding area (9:110,707,332) (hg19). The deletion encompassed six protein-coding gene... 
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KW  - 3121 General medicine, internal medicine and other clinical medicine; GENOME-WIDE ASSOCIATION; HYPOGONADOTROPIC HYPOGONADISM; MESSENGER-RNA; BETA-CATENIN; EXPRESSION; GENE; PREDICTION; FEATURES; PUBERTY; LOCI 
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