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American Journal of Medical Genetics. Part A|April 13, 2012
Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12ValEmma M M Burkitt-Wright, Lisa Bradley, Jennifer Shorto, et al.European Journal of Medical Genetics|June 15, 2020
Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformationsRajesh Madhu, Glenda M Beaman, Kate E Chandler, et al.Journal of Medical Genetics|July 2, 2013
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactylyNicolas Simonis, Isabelle Migeotte, Nelle Lambert, et al.Orphanet Journal of Rare Diseases|June 11, 2011
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new familiesElena Andreucci, Salim Aftimos, Melanie Alcausin, et al.American Journal of Medical Genetics. Part A|June 5, 2003
Further delineation of the phenotype associated with heterozygous mutations in ZFHX1BMeredith Wilson, David Mowat, Florence Dastot-Le Moal, et al.Pediatric Nephrology (Berlin, Germany)|March 6, 2015
Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney diseaseRachel Lennon, Helen M Stuart, Agnieszka Bierzynska, et al.Molecular Genetics & Genomic Medicine|September 26, 2017
Protein structure and phenotypic analysis of pathogenic and population missense variants in <i>STXBP1</i>Mohnish Suri, Jochem M G Evers, Roman A Laskowski, et al.American Journal of Human Genetics|December 26, 2017
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental DisordersVíctor Faundes, William G Newman, Laura Bernardini, et al.European Journal of Human Genetics : EJHG|October 16, 2008
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndromeThomas E Neumann, Judith Allanson, Ines Kavamura, et al.American Journal of Medical Genetics. Part A|June 22, 2019
Costello syndrome: Clinical phenotype, genotype, and management guidelinesKaren W Gripp, Lindsey A Morse, Marni Axelrad, et al.Pageof 7