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Open AccessCorrection to: Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review
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Open AccessAromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare inherited neurometabolic disorder that can lead to severe physical and developmental impairment. This report includes 16 patients from the Middle Ea...
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Open AccessCompound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus
Congenital hydrocephalus (CH) results from the accumulation of excessive amounts of cerebrospinal fluid (CSF) in the brain, often leading to severe neurological impairments. However, the adverse effects of CH ...
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Correction to: Expanding the genetic heterogeneity of intellectual disability
Variant nomenclature discrepancy was identified in the article.
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Article
Expanding the genetic heterogeneity of intellectual disability
Intellectual disability (ID) is a common morbid condition with a wide range of etiologies. The list of monogenic forms of ID has increased rapidly in recent years thanks to the implementation of genomic sequen...
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Article
Open Access17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report
Chromosomal rearrangements involving 17q23 have been described rarely. Deletions at 17q23.1q23.2 have been reported in individuals with developmental delay and growth retardation, whereas duplications at 17q23...
