MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome [PDF]
, 2011 There are multiple genetic disorders with known or unknown etiology grouped under obesity syndromes. Inspite of having multisystem involvement and often having a characteristic presentation, the understanding of the genetic causes in the majority of ...
Inusha Panigrahi +2 more
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Bardet–Biedl Syndrome: Delayed Diagnosis in a 14-Year-Old Child with End-Stage Renal Disease [PDF]
, 2023 Mohammad Rasel +5 more
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Bardet–Biedl syndrome: Genetics, molecular pathophysiology, and disease management
Indian Journal of Ophthalmology, 2016 Primary cilia play a key role in sensory perception and various signaling pathways. Any defect in them leads to group of disorders called ciliopathies, and Bardet–Biedl syndrome (BBS, OMIM 209900) is one among them.
Sathya Priya +3 more
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Day Care General Anaesthesia for a Child with Bardet-Biedl Syndrome [PDF]
, 2010 Suresh Chittoodan, Suzanne Crowe
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Bardet-Biedl syndrome: a multisystem disorder with rare dermatological manifestations
Journal of the Pakistan Medical AssociationBardet-Biedl syndrome (BBS) is a disorder of primary ciliary dysfunction, having a wide range of systemic and dermatological manifestations. We report the case of a nine-year-old patient having multiple erythematous plaques over the dorsal surface of ...
Ghafoor Ullah +5 more
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Kidney involvement in Bardet-Biedl syndrome: urinary concentrating defects highlight the major role of primary cilium in water reabsorption [PDF]
, 2012 Charlie De Melo +4 more
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Bardet-Biedl Syndrome, Crohn Disease, Primary Sclerosing Cholangitis, and Autoantibody Positive Thyroiditis: A Case Report and A Review of a Cohort of BBS Patients [PDF]
, 2012 Ugur Halac, Denise Herzog
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Urine concentrating defect as presenting sign of progressive renal failure in Bardet–Biedl syndrome patients [PDF]
, 2020 Miriam Zacchia +14 more
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A Phenotypic Analysis of Tetrahymena Centrin 2 [PDF]
, 2011 Basal bodies are microtubule organizing centers responsible for anchoring and organizing the cilium. Cilia are found on nearly every mammalian cell type and are important for various cellular functions including fluid movement and sensing the surrounding
Cookson, Michael Wesley
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Bardet–Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations [PDF]
, 2020 Naoya Morisada +6 more
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