Human ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary cilium. Among ciliopathies, Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS) and nephronophthisis (NPH) present clinical and genetic overlap, being allelic at several loci. One of
Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies
✍ Scribed by Katarzyna Szymanska, Ian Berry, Clare V Logan, Simon RR Cousins, Helen Lindsay…
- Book ID
- 120732061
- Publisher
- BioMed Central
- Year
- 2012
- Tongue
- English
- Weight
- 192 KB
- Volume
- 1
- Category
- Article
- ISSN
- 2046-2530
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