Open AccessPMON312 A De Novo Heterozygous Nonsense Variant In The SEC31A Gene Associated With Pituitary Hormone Deficiency And Disorders Of Sex Development.
Author(s) -
Andy Greenfield,
Pawel Herzyk,
Angela K LucasHerald,
Ruth McGowan,
Scottish Genomes Partnership SGP,
Rhian M. Touyz,
Nicola Williams,
Edward S. Tobias,
Danielle Sagar,
Augusto C. Montezano,
Francisco J. Rios,
Lívia L. Camargo,
Graham Hamilton,
Gabriella Gazdagh
Publication year - 2022
Publication title -
journal of the endocrine society
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.046
H-Index - 20
ISSN - 2472-1972
DOI - 10.1210/jendso/bvac150.1293
Subject(s) - endocrinology , hypogonadotrophic hypogonadism , medicine , gonadal dysgenesis , endocrine system , breast development , hormone
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