SUN-219 Human Congenital Arhinia Is Associated with GnRH Deficiency and Primary Testicular Defects

Congenital arhinia (absent external nose) is an extremely rare mendelian disorder (<100 case reports in the past century) caused by heterozygous missense mutations in the gene SMCHD1. Arhinia is frequently accompanied by ocular and reproductive defects, a clinical triad which defines the Bosma ar...

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Detalhes bibliográficos
Publicado no:J Endocr Soc
Main Authors: Delaney, Angela, Volochayev, Rita, Meader, Brooke, Lee, Janice, Almpani, Nadine, Noukelak, Germaine, Brooks, Brian, Henkind, Jennifer, Chalmers, Laura, Law, Jennifer, Williamson, Kathleen, Jacobsen, Christina, Buitrago, Tatiana Pineda, Silva, Orlando Perez, Chie-Hee, Cho, Kaindl, Angela, Anita, Rauch, steindl, Katharina, Garcia-Ortiz, Jose, Bart, Loeys, Russell, Bianca, Prasad, Rameshwar, Mondal, Uttam, Reigstad, Hallvard Martin, Clements, Scott, Salnikov, Kathryn, DiOrio, Nicole, Balasubramanian, Ravikumar, Dwyer, Andrew, Seminara, Stephanie, Crowley, William, Plummer, Lacey, Hall, Janet, Graham, John, Lin, Angela, Shaw, Natalie
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2019
Assuntos:
Reproductive Endocrinology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6552745/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SUN-219
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