Title: | Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families |
Journal : | American Journal of Medical Genetics Part A |
Authors: | Preiksaitiene E ; Voisin N ; Gueneau L ; Benusiene E ; Krasovskaja N ; Blazyte EM ; Ambrozaityte L ; Rancelis T ; Reymond A ; Kucinskas V |
Material Type: | Article |
Publisher: | United States, 12/2019 |
Languages: | English |
Keywords : | case studies ; congenital muscular dystrophy ; dystroglycanopathy ; fetuses ; genotype-phenotype correlation ; homozygotes ; hydrocephaly ; muscular dystrophy ; neuromuscular disease ; POMK gene |
Keywords: | POMK;Walker-Warburg syndrome;hydrocephalus;muscular dystrophy-dystroglycanopathy |
Pubmed / DOI : | Pubmed : 31833209 / DOI : 10.1002/ajmg.a.61453 |
N° Profil MNM : | 2019122 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/31833209 |