Associated Papers
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Bogaert E et al.
American Journal of Human Genetics, 2023
37071997 (PubMed )
Supplement: mmc3.pdf
MORC2 gene de novo mutation leads to Charcot-Marie-Tooth disease type 2Z: A pediatric case report and literature review.
Yang H et al.
Medicine, 2021
POU domain factors in the neuroendocrine system: lessons from developmental biology provide insights into human disease.
Andersen B et al.
Endocrine Reviews, 2001
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