Associated Papers
An adult Chinese patient with developmental delay with short stature, dysmorphic features, and sparse hair (Loucks-Innes syndrome).
Cheng SSW et al.
American Journal of Medical Genetics. Part A, 2021
DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.
Urreizti R et al.
European Journal of Human Genetics : Ejhg, 2020
A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features.
Sekiguchi F et al.
Journal of Human Genetics, 2018
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