Open AccessFamilial global developmental delay secondary to β-mannosidosis
Author(s) -
VykuntarajuK Gowda,
Balamurugan Nagarajan,
SrividyaG Suryanarayana,
VarunvenkatM Srinivasan
Publication year - 2021
Publication title -
journal of pediatric neurosciences
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 18
eISSN - 1998-3948
pISSN - 1817-1745
DOI - 10.4103/jpn.jpn_65_20
Subject(s) - hepatosplenomegaly , sibling , medicine , hypotonia , sanger sequencing , global developmental delay , consanguinity , genetics , missense mutation , gene , mutation , pediatrics , biology , disease , psychology , developmental psychology , phenotype
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