Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

Autor: Joanna Walczak-Sztulpa, Renata Posmyk, Ewelina M. Bukowska-Olech, Anna Wawrocka, Aleksander Jamsheer, Machteld M. Oud, Miriam Schmidts, Heleen H. Arts, Anna Latos-Bielenska, Anna Wasilewska

Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)

Abstract Background Sensenbrenner syndrome, which is also known as cranioectodermal dysplasia (CED), is a rare, autosomal recessive ciliary chondrodysplasia characterized by a variety of clinical features including a distinctive craniofacial appearan

Externí odkaz: https://doaj.org/article/3a057c1244e44416b324608e85beb311

Non-traumatic epidural posterior fossa hematomas in child with Sensenbrenner syndrome: a case report and literature review

Autor: Mariana Mazzuia Guimarães, Daniel Dante Cardeal, José Erasmo Dal Col Lucio, Felipe Hada Sanders, Gustavo Correa Lordelo, Manoel Jacobsen Teixeira, Hamilton Matushita

Publikováno v: Archives of Pediatric Neurosurgery, Vol 3, Iss 2(May-August), Pp e762021-e762021 (2021)

Background: Posterior fossa extradural hematomas are an uncommon condition with more than half of cases appearing in the pediatric population. Although the majority of cases are caused by substantial trauma, it may also be related to systemic disease

Externí odkaz: https://doaj.org/article/4ecaa675c07f41f98a1531da0828bfb6

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Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

Autor: Ewelina Bukowska-Olech, Aleksander Jamsheer, Machteld M. Oud, Anna Wasilewska, Heleen H. Arts, Anna Wawrocka, Anna Latos-Bielenska, Joanna Walczak-Sztulpa, Renata Posmyk, Miriam Schmidts

Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Orphanet Journal of Rare Diseases, 15
Orphanet Journal of Rare Diseases, 15, 1
Orphanet Journal of Rare Diseases

Background Sensenbrenner syndrome, which is also known as cranioectodermal dysplasia (CED), is a rare, autosomal recessive ciliary chondrodysplasia characterized by a variety of clinical features including a distinctive craniofacial appearance as wel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96030fa26cd1c1227e617086f7fd3562
https://doaj.org/article/3a057c1244e44416b324608e85beb311