Cystic kidneys in fetal Walker–Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature-Reference-Cited by-同舟云学术

Cystic kidneys in fetal Walker–Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature

Author:

Nabhan Marwa M.¹²,ElKhateeb Nour³,Braun Daniela A.⁴,Eun Sungho⁴,Saleem Sahar N.⁵,YungGee Heon⁴⁶,Hildebrandt Friedhelm⁴,Soliman Neveen A.¹²^ORCID

Affiliation:

1. Department of Pediatrics, Centre of Pediatric Nephrology & Transplantation, Kasr Al Ainy School of MedicineCairo UniversityCairoEgypt

2. Egyptian Group for Orphan Renal Diseases (EGORD)CairoEgypt

3. Department of Pediatrics, Centre of Pediatric Neurology & Metabolic diseases, Kasr Al Ainy School of MedicineCairo UniversityCairoEgypt

4. Department of Medicine, Boston Children's HospitalHarvard Medical SchoolBostonMassachusetts

5. Department of Radiology, Kasr Al Ainy School of MedicineCairo UniversityCairoEgypt

6. Department of Pharmacology, Brain Korea 21 PLUS Project for Medical SciencesYonsei University College of MedicineSeoulRepublic of Korea

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

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