Mutation ofCANT1causes Desbuquois dysplasia

Author:

Faden Maha,Al-Zahrani Fatema,Arafah Dia,Alkuraya Fowzan S.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference12 articles.

1. Clinical and molecular characterization of Bardet-Biedl Syndrome in consanguineous populations: The power of homozygosity mapping;Abu Safieh;J Med Genet,2009

2. Molecular characterization of retinitis pigmentosa in Saudi Arabia;Aldahmesh;Mol Vis,2009

3. Desbuquois syndrome in an Arab Bedouin family;al-Gazeli;Clin Genet,1996

4. A syndrome of short stature, joint laxity and developmental delay;Anderson;Clin Genet,1982

5. A new syndrome of dwarfism, neonatal death, narrow chest, spondylometaphyseal abnormalities, and advanced bone age;Beemer;Am J Med Genet,1985

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