Associated Papers
A case report of neonatal incontinentia pigmenti complicated by severe cerebrovascular lesions in one of the male monozygotic twins.
Lin X et al.
Frontiers in Pediatrics, 2024
38832002 (PubMed )
Supplement: Table1.xlsx › filter_variants
A Pilot Study of Identification Genetic Background of Craniosynostosis Cases.
Atli EI et al.
The Journal of Craniofacial Surgery, 2021
Nonsyndromic craniosynostosis: novel coding variants.
Sewda A et al.
Pediatric Research, 2019
Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.
Bhattacharya S et al.
Genome Research, 2018
FBN1 contributing to familial congenital diaphragmatic hernia.
Beck TF et al.
American Journal of Medical Genetics. Part A, 2015
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