Suchergebnisse - "Borjas‐Mendoza, Paulo"

H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome.

Autoren: Borja, Nicholas Borjas‐Mendoza, Paulo Bivona, Stephanie et al.

Quelle: American Journal of Medical Genetics. Part A; Jul2023, Vol. 191 Issue 7, p1911-1916, 6p

Two novel heterozygous exonic deletions lead to Chanarin–Dorfman syndrome in a patient with congenital ichthyosis, sensorineural hearing loss, and liver dysfunction.

Autoren: Zoullas, Sofia Morel, Dayna Zafeer, Faraz et al.

Quelle: American Journal of Medical Genetics. Part A; Apr2024, Vol. 194 Issue 4, p1-5, 5p