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Genetics
Achondroplasia: unexpected familial recurrence.
Source/Author: Reiser CA, Pauli RM, Hall JG
Abstract
Discussion of sporadic occurrence of achondroplasia more than 1 time within families.
Full text medical article available by contacting [email protected]
An Introduction to Genes and Genetic Testing
Source/Author: Kids Health for Parents
Web-based (lay)
Autosomal Dominant Inheritance
Source/Author: Medline Plus, US National Library of Medicine
Web-based (lay)
Overview of dominant inheritance.
Autosomal Recessive Inheritance
Source/Author: Medline Plus, US National Library of Medicine
Web-based (lay)
Overview of recessive inheritance.
Genetic counselling & inheritance
Source/Author: Short Statured People of Australia
Web-based (lay)
General discussion of inheritance and prenatal diagnosis
Genetic Fact Sheets Index
Source/Author: Centre for Genetics Education
Web-based (lay)
Fact sheets on Genetics issues, concepts, inheritance patterns, testing and common conditions.
Genetics Fact Sheet: Achondroplasia and other Short Stature syndromes
Source/Author: Centre for Genetics Education - Australia
Web-based (lay)
Overview of skeletal dysplasias, examples of conditions, diagnosis and cause.
Molecular genetic basis of the human chondrodysplasias
Source/Author: Horton WA. Endocrinol Metab Clin North Am. 1996 Sep;25(3):683-97
Abstract
Review and update on the genetic mechanisms of the skeletal dysplasias.
Mosaicism in pseudoachondroplasia.
Source/Author: Ferguson HL, Deere M, Evans R, Rotta J, Hall JG, Hecht JT.
Full text
Alternate inheritance pattern of pseudoachondroplasia.
Nosology and classification of genetic skeletal disorders: 2010 revision.
Source/Author: Warman M et al.
Full text
Updated classification of the over 250 skeletal dysplasias.
Sporadic Genetic Diseases
Source/Author: Wrongdiagnosis.com
Web-based (lay)
Basic overview of how genetic conditions can occur sporadically rather than be inherited from a parent.
Sporadic Genetic Mutations - Achondroplasia
Source/Author: Ericka Okenfuss, MS, LPA Medical Resource Director
Resource
Discussion of how achondroplasia is most often due to a sporadic genetic mutation.
The Achondroplasia Gene
Source/Author: Dr. Judith Hall; LPA Parent Handbook
Resource
Article in lay terms about the discovery of the achondroplasia gene and what it means for people with achondroplasia.
The Continuum of Disability and Trait in the Age of Genetic Manipulation
Source/Author: Ruth Ricker, past president of LPA
Support Group
Ethical discussion regarding the use of genetic testing and prenatal diagnosis for dwarfism and other traits.
The skeletal dysplasias.
Source/Author: Savarirayan R, Rimoin DL. Best Pract Res Clin Endocrinol Metab. 2002 Sep;16(3):547-60.
Abstract
Overview of the classification, genetics and management of the skeletal dysplasias.
X-linked inheritance
X-linked Dominant
X-linked Recessive
Source/Author: Centre for Genetics Education, Australia
Web-based (lay)
Overview of X-linked inheritance.
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