PMC Articles for MedGen (Select 98470) - PMC

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Items: 3

Select item 81565111.

Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review

Roberta Rotunno, Andrea Diociaiuti, Maria Lisa Dentici, Martina Rinelli, Michele Callea, Chiara Retrosi, Giovanna Zambruno, Emanuele Bellacchio, May El Hachem

Genes (Basel) 2021 May; 12(5): 748. Published online 2021 May 17. doi: 10.3390/genes12050748

PMCID:: PMC8156511

Abstract Article PDF–2.9M

Select item 66720262.

Clinical and genetic characterization of individuals with predicted deleterious PHIP variants

Kirsten E. Craddock, Volkan Okur, Ashley Wilson, Erica H. Gerkes, Keri Ramsey, Jennifer M. Heeley, Jane Juusola, Antonio Vitobello, Marie-Noelle Bonnet Dupeyron, Laurence Faivre, Wendy K. Chung

Cold Spring Harb Mol Case Stud. 2019 Aug; 5(4): a004200. doi: 10.1101/mcs.a004200

PMCID:: PMC6672026

Abstract Article PDF–2.7M

Select item 54950323.

Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral–facial–digital overlap syndrome

Jennifer J. Johnston, Chanjae Lee, Ingrid M. Wentzensen, Melissa A. Parisi, Molly M. Crenshaw, Julie C. Sapp, Jeffrey M. Gross, John B. Wallingford, Leslie G. Biesecker

Cold Spring Harb Mol Case Stud. 2017 Jul; 3(4): a001321. doi: 10.1101/mcs.a001321