Severe Respiratory and Swallowing Disorders in Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease Type 1-Reference-Cited by-同舟云学术

Severe Respiratory and Swallowing Disorders in Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease Type 1

Published:2024-10 Issue:5 Volume:10 Page:
ISSN:2376-7839
Container-title:Neurology Genetics
language:en
Short-container-title:Neurol Genet

Author:

Berling Edouard¹^ORCID,Latour Philippe¹,Loiselet Klervie¹,Guémy Clément¹,Vidoni Léo¹,Romero Norma B.¹,Lacene Emmanuelle¹,Evangelista Teresinha¹,Stojkovic Tanya¹^ORCID

Affiliation:

1. From the APHP (E.B., C.G.), Service de Neurologie, Hôpital Raymond Poincaré, Garches; APHP (E.B., C.G.), Centre de référence Nord-Est-Ile-de-France, FHU PHENIX; Université de Versailles Saint-Quentin-en-Yvelines (E.B.), U 1179 INSERM, Paris-Saclay; Centre de Biologie Est (P.L., L.V.), Hospices Civils, Lyon; Department of Pediatric Radiology (K.L.), Hôpital Necker-Enfants Malades, Paris; Sorbonne Université (N.B.R., T.E.), UMRS974, - INSERM, Centre de Recherche en Myologie, Institut de Myologie...

Publisher

Ovid Technologies (Wolters Kluwer Health)

Link

https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000200178

Reference13 articles.

1. Mutations in PTRH2 cause novel infantile‐onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness

2. Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD

3. Homozygous mutation inPTRH2gene causes progressive sensorineural deafness and peripheral neuropathy

4. Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease: Case and Review

5. Diabetes mellitus in an adolescent girl with intellectual disability caused by novel single base pair duplication in the PTRH2 gene: Expanding the clinical spectrum of IMNEPD