Subject
Genetics(clinical),Genetics
Cited by
37 articles.
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1. Chromosome Xp22.3 deletion syndrome with X-linked ichthyosis, Kallmann syndrome, short stature, generalized epilepsy, hearing loss, attention deficit hyperactivity disorder, and intellectual disability – A rare report with review of literature;Journal of Neurosciences in Rural Practice;2024-07-13
2. Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin;International Journal of Dermatology;2023-02-15
3. Klinefelter's Syndrome with Maternal Uniparental Disomy X, Interstitial Xp22.31 Deletion, X-linked Ichthyosis, and Severe Central Nervous System Regression;Journal of Pediatric Genetics;2020-08-20
4. X-Linked Familial Focal Epilepsy Associated With Xp22.31 Deletion;Pediatric Neurology;2020-07
5. Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31;Journal of Clinical Medicine;2020-01-19