Literature DB >> 10382218

Metaphyseal anadysplasia in two sisters.

M Slama1, M Mathieu, I Dehouck, J al Hosri, I Vanthournout, B Baratte, Y Grumbach.   

Abstract

Metaphyseal anadysplasia is a rare form of metaphyseal chondrodysplasia with well-defined radiological abnormalities. The prognosis is good as the natural course results in regression of the lesions with normal stature in adulthood. The few reported cases, exclusively in male children, indicated possible X-linked recessive transmission. The documentation of two affected sisters suggests genetic heterogeneity or another mode of inheritance.

Entities:  

Mesh:

Year:  1999        PMID: 10382218     DOI: 10.1007/s002470050610

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN: 0301-0449


  2 in total

1.  Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia.

Authors:  Ekkehart Lausch; Romy Keppler; Katja Hilbert; Valerie Cormier-Daire; Sarah Nikkel; Gen Nishimura; Sheila Unger; Jürgen Spranger; Andrea Superti-Furga; Bernhard Zabel
Journal:  Am J Hum Genet       Date:  2009-07-16       Impact factor: 11.025

2.  Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia.

Authors:  Dong Li; David R Weber; Matthew A Deardorff; Hakon Hakonarson; Michael A Levine
Journal:  Eur J Hum Genet       Date:  2014-04-30       Impact factor: 4.246

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.