Morbid obesity and spermatogenic failure

Definition:

Morbid obesity and spermatogenic failure (MOSPGF) is an autosomal recessive morbid obesity syndrome. Mutations in CEP19, the gene encoding the ciliary protein, have been identified in patients.

References:

[1]. Adel Shalata, et al. Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice. Am J Hum Genet. 2013 Dec 5;93(6):1061-71. [Content Brief]

[2]. Esra Yıldız Bölükbaşı, et al. Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly. J Med Genet. 2018 Mar;55(3):189-197. [Content Brief]

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