Margo L. Whiteford
Glasgow, SCT G514TF, United Kingdom
Last Updated: 09/26/2026
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Found 12 publications
Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.
Journal: Journal of clinical immunology
Published: August 11, 2020
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 06, 2018
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
Journal: Human mutation
Published: February 23, 2018
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
Journal: Journal of medical genetics
Published: July 27, 2017
Occurrence of nasal dermoid cysts in a family with a single maxillary median central incisor: extending the clinical spectrum.
Journal: Clinical dysmorphology
Published: June 03, 2017
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype.
Journal: Journal of medical genetics
Published: April 19, 2017
Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.
Journal: European journal of human genetics : EJHG
Published: April 11, 2017
Clinical and molecular consequences of disease-associated de novo mutations in SATB2.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 24, 2016
Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta.
Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: June 20, 2014
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
Journal: American journal of human genetics
Published: January 06, 2014
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.
Journal: Orphanet journal of rare diseases
Published: February 05, 2013
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.
Journal: American journal of human genetics
Published: November 22, 2011
Showing 1-12 of 12
Last Updated: 09/26/2026