Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis

Autor: Helen Spoudeas, Sanner Jrf, Jane A. Hurst, Le Quesne Stabej P, Mehul T. Dattani, Alejandro Martinez-Aguayo, Pratik Shah, Monica Arancibia, Carolina Loureiro, Hywel Williams, Wendy D Jones, Louise C. Gregory, Louise Ocaka

Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 104:5737-5750

ContextCongenital hypopituitarism (CH) is rarely observed in combination with severe joint contractures (arthrogryposis). Schaaf-Yang syndrome (SHFYNG) phenotypically overlaps with Prader-Willi syndrome, with patients also manifesting arthrogryposis.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efc31a45e00d438a3232068bbdc025dd
https://doi.org/10.1210/jc.2019-00631

Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis.

Autor: Gregory LC; Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Shah P; Great Ormond Street Hospital, London, United Kingdom., Sanner JRF; Great Ormond Street Hospital, London, United Kingdom., Arancibia M; Division de Pediatria, Escuela de Medicina, Pontificia Universidad Catolica de Chile, Santiago, Chile., Hurst J; NE Thames Genetics Service, Great Ormond Street Hospital, London, United Kingdom., Jones WD; NE Thames Genetics Service, Great Ormond Street Hospital, London, United Kingdom., Spoudeas H; Great Ormond Street Hospital, London, United Kingdom., Le Quesne Stabej P; Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Williams HJ; Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Ocaka LA; Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Loureiro C; Division de Pediatria, Escuela de Medicina, Pontificia Universidad Catolica de Chile, Santiago, Chile., Martinez-Aguayo A; Division de Pediatria, Escuela de Medicina, Pontificia Universidad Catolica de Chile, Santiago, Chile., Dattani MT; Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Great Ormond Street Hospital, London, United Kingdom.

Publikováno v: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2019 Dec 01; Vol. 104 (12), pp. 5737-5750.