Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Patil VA, Lila AR, Shah N, Arya S, Sarathi V, Shah R, Jadhav SS, Memon SS, Karlekar M, Bandgar T.
Patil VA, et al.
Clin Endocrinol (Oxf). 2022 Dec;97(6):804-813. doi: 10.1111/cen.14822. Epub 2022 Sep 30.
Clin Endocrinol (Oxf). 2022.
PMID: 36138264
The affected genes were FGFR1 (9.8%), ANOS1 (7.5%), PROKR2 (6.1%), CHD7 (5.4%), oligogenic (2.1%), and others <1% each (FGF8, SOX10, PROK2, SEMA3A, IL17RD, and GNRHR). FGFR1 and ANOS1 were the commonly affected genes globally, whereas PROKR2 was commonest in studies …
The affected genes were FGFR1 (9.8%), ANOS1 (7.5%), PROKR2 (6.1%), CHD7 (5.4%), oligogenic (2.1%), and others <1% each (FGF8, …