PMC Links for Protein (Select 259906085) - PMC

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Items: 2

Select item 58814531.

Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome

Mohammad Almeqdadi, Jennifer L. Kemppainen, Pavel N. Pichurin, Ralitza H. Gavrilova

Am J Case Rep. 2018; 19: 347–353. Published online 2018 Mar 25. doi: 10.12659/AJCR.907395

PMCID:: PMC5881453

Abstract Article PDF–495K

Select item 26680592.

Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome

Anas M. Alazami, Amr Al-Saif, Abdulaziz Al-Semari, Saeed Bohlega, Soumaya Zlitni, Fatema Alzahrani, Prashant Bavi, Namik Kaya, Dilek Colak, Hanif Khalak, Andy Baltus, Borut Peterlin, Sumita Danda, Kailash P. Bhatia, Susanne A. Schneider, Nadia Sakati, Christopher A. Walsh, Futwan Al-Mohanna, Brian Meyer, Fowzan S. Alkuraya

Am J Hum Genet. 2008 Dec 12; 83(6): 684–691. Published online 2008 Dec 5. doi: 10.1016/j.ajhg.2008.10.018