Restricted growth (RG) or dwarfism is a varied phenotype ascribable to many different causes, most of which are genetic. Conditions associated with disproportionate short stature (DSS) are usually caused by de novo dominant mutations in genes coding for proteins involved in cartilage/bone development. Rarer conditions, which may occur in inbred families, show an autosomal recessive inheritance. Causative mutations, consequent to cellular dysfunctions, genotype-to-phenotype correlations in RG conditions such as: Achondroplasia, Hypochondroplasia, Thanatophoric Dysplasia, Severe achondroplasia with delay in development and acanthosis nigricans, Pseudoachondroplasia, Multiple Epiphyseal Dysplasia, Diastrophic Dysplasia, Achondrogenesis, Osteogenesis Imperfecta, are discussed in this chapter.

Molecular defects and cellular dysfunctions in restricted growth conditions

MOTTES, Monica
;
LIEVENS, Patricia
2016-01-01

Abstract

Restricted growth (RG) or dwarfism is a varied phenotype ascribable to many different causes, most of which are genetic. Conditions associated with disproportionate short stature (DSS) are usually caused by de novo dominant mutations in genes coding for proteins involved in cartilage/bone development. Rarer conditions, which may occur in inbred families, show an autosomal recessive inheritance. Causative mutations, consequent to cellular dysfunctions, genotype-to-phenotype correlations in RG conditions such as: Achondroplasia, Hypochondroplasia, Thanatophoric Dysplasia, Severe achondroplasia with delay in development and acanthosis nigricans, Pseudoachondroplasia, Multiple Epiphyseal Dysplasia, Diastrophic Dysplasia, Achondrogenesis, Osteogenesis Imperfecta, are discussed in this chapter.
978-953-51-2694-2
dwarfism, cartilage, bone, chondrocyte, osteoblast
File in questo prodotto:
File Dimensione Formato  
51770.pdf

accesso aperto

Descrizione: Chapter 4- Capitolo completo estratto da libro
Tipologia: Versione dell'editore
Licenza: Creative commons
Dimensione 11.11 MB
Formato Adobe PDF
11.11 MB Adobe PDF Visualizza/Apri

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/951861
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus ND
  • ???jsp.display-item.citation.isi??? ND
social impact