Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I)-Reference-Cited by-同舟云学术

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Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I)

Published:2010-09-03 Issue:10 Volume:152A Page:2640-2645
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Chetty-John Shilpa,Piwnica-Worms Katie,Bryant Joy,Bernardini Isa,Fischer Roxanne E.,Heller Theo,Gahl William A.,Gunay-Aygun Meral

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference35 articles.

1. Renal-hepatic-pancreatic dysplasia: A syndrome reconsidered;Bernstein;Am J Med Genet,1987

2. Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome;Callier;Am J Med Genet Part A,2008

3. Normal values for renal length and volume as measured by magnetic resonance imaging;Cheong;Clin J Am Soc Nephrol,2007

4. Sporadic orofaciodigital syndrome type I presenting as end-stage renal disease;Coll;Nephrol Dial Transplant,1997

5. Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum;Connacher;J Med Genet,1987

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1. Primary cilia and actin regulatory pathways in renal ciliopathies;Frontiers in Nephrology;2024-01-16

2. Non-motile Ciliopathies of the Kidney;Research Journal of Biotechnology;2023-10-15

3. Emerging principles of primary cilia dynamics in controlling tissue organization and function;The EMBO Journal;2023-09-25

4. Oral-facio-digital syndrome type I: In the differential diagnosis of autosomic dominant polycystic kidney disease, about three cases;Nefrología (English Edition);2023-03

5. OFD1 : One gene, several disorders;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2022-02-02

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