@article{8f6bb5cc89664ed4ac41ceb761c035a7,
title = "IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management",
abstract = "Clinical and biochemical characteristics of 69 male patients and 56 female IGSF1 mutation carriers were collected, providing recommendations for mutational analysis, endocrine work-up, and long-term care",
author = "Joustra, {S. D.} and Heinen, {C. A.} and N. Schoenmakers and M. Bonomi and Ballieux, {B. E. P. B.} and M.-O. Turgeon and Bernard, {D. J.} and E. Fliers and {van Trotsenburg}, {A. S. P.} and M. Losekoot and L. Persani and Wit, {J. M.} and Biermasz, {N. R.} and Pereira, {A. M.} and W. Oostdijk",
year = "2016",
doi = "https://doi.org/10.1210/jc.2015-3880",
language = "English",
volume = "101",
pages = "1627--1636",
journal = "Journal of clinical endocrinology and metabolism",
issn = "0021-972X",
publisher = "Oxford University Press",
number = "4",
}