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

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 well as skeletal, ectodermal, liver and renal anomal...

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Bibliografiska uppgifter
I publikationen:Orphanet J Rare Dis
Huvudupphovsmän: Walczak-Sztulpa, Joanna, Posmyk, Renata, Bukowska-Olech, Ewelina M., Wawrocka, Anna, Jamsheer, Aleksander, Oud, Machteld M., Schmidts, Miriam, Arts, Heleen H., Latos-Bielenska, Anna, Wasilewska, Anna
Materialtyp: Artigo
Språk:Inglês
Publicerad: BioMed Central 2020
Ämnen:
Research
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6995138/
https://ncbi.nlm.nih.gov/pubmed/32007091
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-1303-2
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