ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes
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DOI: 10.1002/humu.23367
Abstract: Pathogenic variants in genes, which encode DNA repair and damage response proteins, result in a number of genomic instability syndromes with features of accelerated aging. ERCC4 (XPF) encodes a protein that forms a complex with… read more here.
Keywords: variants identified; ercc4 variants; second case; identified cohort ... See more keywords
Report of second case and clinical and molecular characterization of Eiken syndrome
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DOI: 10.1111/cge.13413
Abstract: We report a boy with Eiken syndrome caused by a homozygous missense variant in Parathyroid hormone 1 receptor (PTH1R) c.103G > A [p.(Glu35Lys)]. Eiken syndrome is a very rare skeletal dysplasia due to bi‐allelic variants in PTH1R.… read more here.
Keywords: second case; eiken syndrome; case clinical; report ... See more keywords
Intra-fourth Ventricular Schwannoma in Pediatric Age Group: Report of Second Case in the Western Literature with Review of Literature
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Pediatric Neurosciences"
DOI: 10.4103/jpn.jpn_106_17
Abstract: Schwannoma originates from the myelin sheath of peripheral nerves. It accounts for about 8% of all intracranial tumors. Commonly, schwannoma is located in the extra-axial locations; intra-axial schwannomas are extremely uncommon. The schwannoma arising from… read more here.
Keywords: literature; second case; schwannoma; intra fourth ... See more keywords