A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome
Title:
A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome
Author:
Nevanlinna, Viivi Konovalova, Svetlana Ceulemans, Berten Muona, Mikko Laari, Anni Hilander, Taru Gorski, Katarin Valanne, Leena Anttonen, Anna-Kaisa Tyynismaa, Henna Courage, Carolina Lehesjoki, Anna-Elina