Associated Papers
Analysis of children with familial short stature: who should be indicated for genetic testing?
Plachy L et al.
Endocrine Connections, 2023
37561071 (PubMed )
Supplement: supplementary_table_2.pdf
A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress response.
Strong A et al.
American Journal of Medical Genetics. Part A, 2022
High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH.
Plachy L et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome.
Jiang Y et al.
Molecular Genetics & Genomic Medicine, 2019
Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.
Bornholdt D et al.
Human Mutation, 2013
Select a paper to view details