Last Updated: 09/26/2026
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Found 15 publications
Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 21, 2020
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Journal: Human mutation
Published: May 31, 2019
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Journal: American journal of human genetics
Published: August 08, 2017
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.
Journal: European journal of human genetics : EJHG
Published: December 05, 2016
Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?
Journal: Orphanet journal of rare diseases
Published: June 14, 2016
The importance of chilblains as a diagnostic clue for mild Aicardi-Goutières syndrome.
Journal: American journal of medical genetics. Part A
Published: April 26, 2016
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
Journal: Human mutation
Published: March 20, 2015
Hypohidrotic ectodermal dysplasia, osteopetrosis, lymphedema, and immunodeficiency in an infant with multiple opportunistic infections.
Journal: Pediatric dermatology
Published: February 15, 2013
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
Journal: European journal of human genetics : EJHG
Published: November 30, 2012
Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein.
Journal: The Journal of clinical endocrinology and metabolism
Published: August 31, 2012
Congenital extrarenal malignant rhabdoid tumor in an infant with distal 22q11.2 deletion syndrome: the importance of SMARCB1.
Journal: The American Journal of dermatopathology
Published: July 21, 2012
Dental abnormalities in Schimke immuno-osseous dysplasia.
Journal: Journal of dental research
Published: June 16, 2012
Last Updated: 09/26/2026