Search

Your search keyword '"Richard H Scott"' showing total 3 results
Start Over Author "Richard H Scott" Journal clinical dysmorphology
3 results on '"Richard H Scott"'

1. Contiguous gene deletion of TBX5 and TBX3: report of another case

Author

Robert W. Yates, Morgan R. Keane, Richard H Scott, Drew Ellershaw, Patricia A. Foley, Gill D. Smith, Alistair Calder, Caroline E. Brain, and Francesca Forzano

Subjects
0301 basic medicine, Genetics, Heart Defects, Congenital, business.industry, General Medicine, 030105 genetics & heredity, Gene deletion, Heart Septal Defects, Atrial, Pathology and Forensic Medicine, 03 medical and health sciences, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Medicine, Humans, Abnormalities, Multiple, Female, Upper Extremity Deformities, Congenital, Anatomy, business, Child, T-Box Domain Proteins, Genetics (clinical), Gene Deletion, Lower Extremity Deformities, Congenital
Published
2017

2. The postnatal features of bent bone dysplasia-FGFR2 type

Author

Alistair Calder, Richard H Scott, Jane A. Hurst, C Meaney, and Lucy Jenkins

Subjects
Bone Diseases, Developmental, business.industry, Craniofacial abnormality, Infant, Newborn, Infant, General Medicine, Anatomy, medicine.disease, Infant newborn, Pathology and Forensic Medicine, Craniofacial Abnormalities, Bent bone dysplasia, Pediatrics, Perinatology and Child Health, Humans, Medicine, Receptor, Fibroblast Growth Factor, Type 2, business, Genetics (clinical)
Published
2014
Full Text
View/download PDF

3. Metaphyseal dysplasia, Spahr type; missense MMP13 mutations in two Iraqi siblings

Author

Richard H Scott, Alistair Calder, Jane A. Hurst, and Shereen Tadros

Subjects
0301 basic medicine, Male, Mutation, Missense, Consanguinity, 030105 genetics & heredity, Bone fragility, Osteochondrodysplasias, Bone and Bones, Pathology and Forensic Medicine, 03 medical and health sciences, Matrix Metalloproteinase 13, medicine, Missense mutation, Humans, Allele, Child, Genetics (clinical), Alleles, Genetics, business.industry, Siblings, Homozygote, Facies, High-Throughput Nucleotide Sequencing, General Medicine, Metaphyseal dysplasia, medicine.disease, Pedigree, Radiography, Phenotype, Pediatrics, Perinatology and Child Health, Iraq, Female, Anatomy, business
Abstract

We report on two siblings of Iraqi descent with clinical and radiographic features of metaphyseal dysplasia, Spahr type (MDST), born to consanguineous unaffected parents. Molecular testing confirmed pathogenic mutations in MMP13. We review the considerable overlap between MDST and other related disorders. These cases confirm the phenotypic variability and regressive nature of MDST in addition to suggesting bone fragility as a feature.

Published
2016

Catalog

Books, media, physical & digital resources
See catalog results