BMC Med. Genet.
A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients.
Afzal S, Ramzan K, Ullah S, Wakil SM, Jamal A, Basit S, Waqar AB
X-linked ichthyosis (XLI; OMIM# 308100) is a recessive keratinization disorder characterized by the presence of dark brown, polygonal, adherent scales ...
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Source: PubMed
Urologiia
[Disorders of sex development 46 XY and bilateral metachronous wilms tumor in a child with mutation in exon 7 of WT1 gene].
Akramov NR, Osipova IV, Zakirov AK, Khaertdinov EI
Denys-Drash syndrome is characterized by a triad: nephropathy, a 46, XY disorder of sex development, and nephroblastoma with mutations in the gene WT1 ...
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Source: PubMed
Mol Genet Genomic Med 2020 Jan 28
A novel interstitial deletion of chromosome 2q21.1-q23.3: Case report and literature review.
Almuzzaini B, Alatwi NS, Alsaif S, Al Balwi MA
Interstitial deletions of 2q are rare. Those that have been reported show varying clinical manifestations according to the size of the deletion and th ...
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Source: PubMed
Adv Med Sci
Plasma level of laminin 5 and collagen IV in cryptorchidism.
Komarowska M, Szymanska B, Oldak L, Sankiewicz A, Matuszczak E, Gorodkiewicz E, Debek W, Milewski R, Hermanowicz A
Laminin 5 and collagen IV are the main compounds of the extracellular matrix of the germinal epithelium. The purpose of this study was to evaluate the ...
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Source: PubMed
J. Urol. 2020 Jan 22
Diagnosis and Management of Intratubular Germ Cell Neoplasia in Situ: A Systematic Review.
Gupta M, Cheaib JG, Patel HD, Sharma R, Zhang A, Bass EB, Pierorazio PM
We performed a systematic review of studies assessing the diagnosis and effectiveness of management strategies for patients with germ cell neoplasia i ...
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Source: PubMed
