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Bardet-Biedl syndrome [PDF]

Bangabandhu Sheikh Mujib Medical University Journal, 2016
The Bardet-Biedl syndrome is a rare genetically heterogeneous, autosomal recessive inherited disorder with wide variability in expression. It presents with varied clinical manifestations like retinitis pigmentosa, polydactyly, central obesity, mental ...
Mujammel Haque, Md. Fakhrul Alam, Suraiya Begum, Shahana A. Rahman   +3 more
doaj   +3 more sources

Psychosis as a rare neuropsychiatric manifestation of Bardet–Biedl syndrome: A case report [PDF]

Journal of International Medical Research
Bardet–Biedl syndrome is a rare, pleiotropic genetic disorder. Despite advances in genetic testing, the diagnosis of Bardet–Biedl syndrome remains primarily clinical, particularly in low-resource settings.
Selebogo Moremi, Mpho Hubona, Taboka Maphorisa, Anthony A Olashore   +3 more
doaj   +2 more sources

Bardet–Biedl syndrome in two sibling pairs: a case series [PDF]

Journal of Medical Case Reports
Background Bardet–Biedl syndrome is a rare multisystem ciliopathy defined by retinal dystrophy, obesity, polydactyly, hypogonadism, and renal anomalies, often accompanied by neurodevelopmental and behavioral issues.
Abdul Aziz, Muhammad Shahzil, Anfal Arshad, Muhammad Rashid Asghar, Munzir Latif, Aimon Riaz, Khuram Bashir, Nayyar Saleem, Zubair Ahmed   +8 more
doaj   +2 more sources

Managing Bardet–Biedl Syndrome—Now and in the Future

Frontiers in Pediatrics, 2018
Bardet–Biedl syndrome is a rare autosomal recessive multisystem disorder caused by defects in genes encoding for proteins that localize to the primary cilium/basal body complex. Twenty-one disease-causing genes have been identified to date.
Elizabeth Forsythe, Joanna Kenny, Chiara Bacchelli, Philip L. Beales   +3 more
doaj   +3 more sources

Incidental diagnosis of Bardet–Biedl syndrome in a case of abdominal tuberculosis: a case report [PDF]

Journal of Medical Case Reports
Background Bardet–Biedl syndrome is a rare autosomal recessive disease occurring due to a ciliopathic genetic defect. It is caused by mutations in genes encoding proteins vital for the BBSome complex.
Adithya Andanappa, Sai Santhosha Mrudula Alla, Aparna Malireddi, Prajwal Udedh, Hanisha Reddy Kukunoor, Deekshitha Alla, Uday Kumar Repalle, Bhanu Prasad Kosuru, Soujanya Tirupati, Ruth Getaneh Bayeh   +9 more
doaj   +2 more sources

A novel protein truncating mutation of TTC8 causes Bardet-Biedl Syndrome (BBS) in a Pakistani family [PDF]

Genetics and Molecular Biology
Bardet-Biedl syndrome (BBS) is a rare ciliopathic disorder that segregates in an autosomal recessive manner. Genetic studies have so far identified 26 BBS-associated genes worldwide.
Sana Fatima, Dong Sun, Jianguo Han, Ming Qiu, Safeer Ahmad, Muhammad Zubair, Muhammad Zeeshan Ali, Safdar Abbas, Maria Shafiq, Muhammad Muzammal, Hadia Gul, Jabbar Khan, Shiwei Du, Muzammil Ahmad Khan   +13 more
doaj   +3 more sources

Rare Case of Laurence–Moon–Bardet–Biedl Syndrome With Pulmonary Hypertension: A Case Report [PDF]

Clinical Case Reports
Laurence‐Moon‐Bardet‐Biedl Syndrome is a complicated polygenic disorder that can have lethal manifestations such as pulmonary hypertension. Early recognition, comprehensive medical treatment, and psychological intervention for the family are crucial, but
Areeba Mariam Mehmood, S. M. Salman Hassan, Ayesha Malik, Muhammad Faizan, Muhammad Usama bin Shabbir, Aqsa Jabeen, Allahdad Khan, Aseel Kamal   +7 more
doaj   +2 more sources

Primary Amenorrhea in a 15‐Year‐Old Girl Leading to the Diagnosis of Bardet‐Biedl Syndrome: A Case Report [PDF]

Clinical Case Reports
This case report highlights the clinical complexity of Bardet‐Biedl syndrome, a rare autosomal recessive disorder, emphasizing reproductive anomalies to aid in diagnosis and management.
Azka Noor, Digbijay Kunwar, Zahra Tasneem, Saad Ameer Ishaq   +3 more
doaj   +2 more sources

Bardet–Biedl syndrome [PDF]

European Journal of Human Genetics, 2012
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by retinal dystrophy, obesity, post-axial polydactyly, renal dysfunction, learning difficulties and hypogonadism. Many associated minor features can be helpful in making a diagnosis and are important in the clinical management of BBS.
Elizabeth, Forsythe, Philip L, Beales
openaire   +3 more sources

Ciliary signaling proteins are mislocalized in the brains of Bardet-Biedl syndrome 1-null mice

Frontiers in Cell and Developmental Biology, 2023
In the brain, primary cilia are found on most, if not all, central neurons. The importance of neuronal cilia is underscored by the fact that human diseases caused by primary cilia dysfunction, which are known as ciliopathies, are associated with ...
Toneisha Stubbs, James I. Bingman, Jason Besse, Kirk Mykytyn   +3 more
doaj   +1 more source