Cargando…

Rarity of Laurence Moon Bardet Biedl Syndrome and its Poor Management in the Pakistani Population

Laurence Moon Bardet Biedl syndrome is characterized as a rare genetic disorder, with a wide range of presenting symptoms such as mental retardation, decreased visual acuity, obesity, hypogonadism, and polydactyly. The diagnosis of this syndrome is easily overlooked due to its rarity, with a prevale...

Descripción completa

Detalles Bibliográficos
Autores principales:	Khan, Omair A, Majeed, Ramsha, Saad, Muhammad, Khan, Asad, Ghassan, Ayesha
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cureus 2019
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6476609/ https://www.ncbi.nlm.nih.gov/pubmed/31058008 http://dx.doi.org/10.7759/cureus.4114

Ejemplares similares

Laurence-moon-biedl-bardet syndrome: An overview
por: Rissardo, Jamir Pitton, et al.
Publicado: (2020)

Laurence-Moon-Bardet Biedl Syndrome With Cholelithiasis
por: Kaleem, Safa, et al.
Publicado: (2023)

Laurence-Moon-Bardet-Biedl Syndrome: A Case Report
por: Khan, Bilal Ahmed, et al.
Publicado: (2019)

Laurence-Moon-Bardet-Biedl Syndrome: A Rare Case With a Literature Review
por: Kumar, Aneel, et al.
Publicado: (2020)

The Laurence-Moon-Bardet-Biedl Syndrome. Report of Two Cases
por: Rao, K. Someswara
Publicado: (1950)

Genotype and Phenotype in an unusual form of Laurence–Moon–Bardet–Biedl syndrome
por: Kamme, Christina, et al.
Publicado: (2016)

Laurence-Moon-Biedl Syndrome
por: Nandi, A. K.
Publicado: (1949)

Nystagmus in Laurence-Moon-Biedl Syndrome
por: Janati, A. Bruce, et al.
Publicado: (2015)

Laurence-Moon-Bardet-Biedl Syndrome with Coexisting Abdominal Distension and Positive Fluid Thrill: A Rare Manifestation Reported in Karachi, Pakistan
por: Qadar, Laila Tul, et al.
Publicado: (2019)

Primary Hypertension as the Presenting Feature of Laurence-Moon-Bardet-Biedl Syndrome: A Report of Two Children
por: Thadchanamoorthy, Vijayakumary, et al.
Publicado: (2021)

Commentary: Retinitis pigmentosa in Laurence–Moon–Bardet–Biedl syndrome: Genomic sequencing, gene therapy, and gene editing
por: Bansal, Mayank
Publicado: (2022)

LAURENCE-MOON-BIEDL SYNDROME WITH SCHIZOPHRENIA (A CASE REPORT)
por: Jain, K. C., et al.
Publicado: (1981)

Retinitis pigmentosa in Laurence-Moon-Bardet-Biedl syndrome in India: Electronic medical records driven big data analytics: Report II
por: Parameswarappa, Deepika C, et al.
Publicado: (2022)

Review of the phenotypes and genotypes of Bardet-Biedl syndrome from China
por: Xin-Yi, Zou, et al.
Publicado: (2023)

Anaesthetic management of a patient with Laurence Moon Biedl syndrome undergoing ostium primum atrial septal defect closure
por: Dhulkhed, Vithal K., et al.
Publicado: (2013)

Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees
por: Rao, Ali Raza, et al.
Publicado: (2023)

Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum
por: Maria, Maleeha, et al.
Publicado: (2016)

Bardet-Biedl Syndrome: A Rare Case From Ophthalmology Perspective
por: Alhamoud, Mustafa, et al.
Publicado: (2022)

Musculoskeletal Manifestations in Patients With Bardet-Biedl Syndrome: A Report of Two Cases
por: Arroyo Gonzalez, Gabriela M, et al.
Publicado: (2023)

Bardet–Biedl Syndrome in an Ethiopian
por: Tsegaw, Asamere, et al.
Publicado: (2021)

Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome
por: Ajmal, Muhammad, et al.
Publicado: (2013)

Bardet-Biedl and Alström syndromes in Spain
por: Valverde, D, et al.
Publicado: (2012)

Bardet–Biedl syndrome: beyond the cilium
por: Tobin, Jonathan L., et al.
Publicado: (2007)

Kidney failure in Bardet–Biedl syndrome
por: Meyer, Jennifer R., et al.
Publicado: (2022)

Bardet–Biedl Syndrome Presenting in Adulthood
por: Ankleshwaria, Chinmay, et al.
Publicado: (2022)

Computational and Structural Analysis to Assess the Pathogenicity of Bardet-Biedl Syndrome Related Missense Variants Identified in Bardet-Biedl Syndrome 10 Gene (BBS10)
por: Gupta, Neha, et al.
Publicado: (2022)

Megaloblastic Anemia in Bardet-Biedl Syndrome: A Rare Case Report
por: Hassan, Subtain, et al.
Publicado: (2023)

Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet–Biedl Syndrome
por: Nawaz, Hamed, et al.
Publicado: (2023)

Managing Bardet–Biedl Syndrome—Now and in the Future
por: Forsythe, Elizabeth, et al.
Publicado: (2018)

A rare case of Bardet–Biedl syndrome
por: Shrinkhal,, et al.
Publicado: (2019)

Bardet–Biedl syndrome: a case series
por: Elawad, Omer Ali Mohamed Ahmed, et al.
Publicado: (2022)

Bangladeshi Case Series of Bardet–Biedl Syndrome
por: Osman, Fariah, et al.
Publicado: (2023)

Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome
por: Schaefer, Elise, et al.
Publicado: (2019)

Genetic predictors of cardiovascular morbidity in Bardet–Biedl syndrome
por: Forsythe, E, et al.
Publicado: (2015)

A Rod-Sparing Retinopathy in Bardet-Biedl Syndrome
por: Chiu, Cynthia S., et al.
Publicado: (2015)

Bardet-Biedl Syndrome with End Stage Renal Disease
por: Parakh, Rajendrakumar, et al.
Publicado: (2016)

Reproduction Function in Male Patients With Bardet Biedl Syndrome
por: Koscinski, Isabelle, et al.
Publicado: (2020)

Proteomic and Transcriptomic Landscapes of Alström and Bardet–Biedl Syndromes
por: Smyczynska, Urszula, et al.
Publicado: (2022)

Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook
por: Melluso, Andrea, et al.
Publicado: (2023)

Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families
por: Ullah, Asmat, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_h6slvskd7i240qp2iko3ljmvgo