A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome.

Added 804 days ago (20.09.2019)
Authors: Nevanlinna V, Konovalova S, Ceulemans B, Muona M, Laari A, Hilander T, Gorski K, Valanne L, Anttonen AK, Tyynismaa H, Courage C, Lehesjoki AE
PubMed id: 31536827
Read article