First Case of Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation Harboring Co-inherited Va...
First Case of Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation Harboring Co-inherited Variants in HERC1 and PMP22 Genes from Iran: Two Novel Variants
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Publisher
Tehran: Academy of Medical Sciences of I.R. Iran
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Language
English
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Publisher
Tehran: Academy of Medical Sciences of I.R. Iran
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Contents
Here, we report a case with concomitant variants: a novel homozygous HERC1 gene variant and a novel heterozygous PMP22 duplication. The 2-year-old male presented with seizures, developmental delay, macrocephaly, hypotonia, unilateral hypertrophy, thoracic scoliosis, normal brain MRI, and elevated homocysteine level which normalized after treatment....
Alternative Titles
Full title
First Case of Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation Harboring Co-inherited Variants in HERC1 and PMP22 Genes from Iran: Two Novel Variants
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11786211
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11786211
Other Identifiers
ISSN
1029-2977
E-ISSN
1735-3947
DOI
10.34172/aim.31593
