Cargando…

A novel nonsense mutation in NPR2 gene causing Acromesomelic dysplasia, type Maroteaux in a consanguineous family in Southern Punjab (Pakistan)

BACKGROUND: Acromesomelic dysplasia, type Maroteaux (AMDM) is a rare skeletal dysplasia following autosomal recessive mode of inheritance and characterized by abnormal growth plates, short and abnormal bones in the extremities and spine. OBJECTIVE: Present study was designed to report the molecular...

Descripción completa

Detalles Bibliográficos
Autores principales:	Mustafa, Saima, Akhtar, Zafrin, Latif, Muhammad, Hassan, Mubashir, Faisal, Muhammad, Iqbal, Furhan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Singapore 2020
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7374443/ https://www.ncbi.nlm.nih.gov/pubmed/32506268 http://dx.doi.org/10.1007/s13258-020-00955-3

Ejemplares similares

Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type
por: Wu, Jing, et al.
Publicado: (2022)

A novel NPR2 mutation (p.Arg388Gln) in a patient with acromesomelic dysplasia, type Maroteaux
por: Amano, Naoko, et al.
Publicado: (2020)

A mild case of acromesomelic dysplasia, type Maroteaux with novel natriuretic peptide receptor B (NPR2) variants
por: Murch, Oliver, et al.
Publicado: (2021)

Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux
por: Khan, Saadullah, et al.
Publicado: (2012)

An Iranian Patient with Maroteaux Type Acromesomelic Dysplasia, Showing no Involvement of Distal Lower Limbs
por: Moravej, Hossein, et al.
Publicado: (2020)

The cn/cn dwarf mouse. Histomorphometric, ultrastructural, and radiographic study in mutants corresponding to human acromesomelic dysplasia Maroteaux type (AMDM)
por: Shapiro, Frederic, et al.
Publicado: (2014)

A Missense Mutation (c.1037 G > C, p. R346P) in PAPSS2 Gene Results in Autosomal Recessive form of Brachyolmia Type 1 (Hobaek Form) in A Consanguineous Family
por: Mustafa, Saima, et al.
Publicado: (2022)

Mutational analysis in sodium-borate cotransporter SLC4A11 in consanguineous families from Punjab, Pakistan
por: Iqbal, Afia, et al.
Publicado: (2022)

Correction: Mutational analysis in sodium-borate cotransporter SLC4A11 in consanguineous families from Punjab, Pakistan
por: Iqbal, Afia, et al.
Publicado: (2023)

Prevalence of foot ulcers in diabetic patients in Punjab, Pakistan
por: Akhtar, Sohail, et al.
Publicado: (2022)

Molecular Epidemiology of Theileria annulata in Cattle from Two Districts in Punjab (Pakistan)
por: Parveen, Asia, et al.
Publicado: (2021)

Molecular detection of Ehrlichia canis in dogs from three districts in Punjab (Pakistan)
por: Malik, Muhammad I., et al.
Publicado: (2018)

Consanguinity and its socio-biological parameters in Rahim Yar Khan District, Southern Punjab, Pakistan
por: Riaz, Hafiza Fizzah, et al.
Publicado: (2016)

Anesthesia for a patient of acromesomelic dysplasia with associated hydrocephalus, Arnold Chiari malformation and syringomyelia
por: Haldar, Rudrashish, et al.
Publicado: (2013)

A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia
por: Stange, Katja, et al.
Publicado: (2015)

Occurrence and seasonal variation of human Plasmodium infection in Punjab Province, Pakistan
por: Qureshi, Naveeda Akhtar, et al.
Publicado: (2019)

Molecular prevalence and phylogeny of Anaplasma marginale, Anaplasma ovis and Theileria ovis in goats and sheep enrolled from a hill station in Punjab, Pakistan
por: Arif, Muhammad, et al.
Publicado: (2023)

Correction to: Occurrence and seasonal variation of human Plasmodium infection in Punjab Province, Pakistan
por: Qureshi, Naveeda Akhtar, et al.
Publicado: (2020)

A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family
por: Ali, Ghazanfar, et al.
Publicado: (2023)

An ethnobotanical study of wetland flora of Head Maralla Punjab Pakistan
por: Iqbal, Muhammad Sajjad, et al.
Publicado: (2021)

Ethno-veterinary uses of Poaceae in Punjab, Pakistan
por: Majeed, Muhammad, et al.
Publicado: (2020)

Multiple Dentigerous Cysts as a Rare Presentation of Maroteaux–Lamy Syndrome
por: Shah, Ajaz Ahmad, et al.
Publicado: (2017)

Perceptions, Vulnerability and Adaptation Strategies for Mitigating Climate Change Effects among Small Livestock Herders in Punjab, Pakistan
por: Faisal, Muhammad, et al.
Publicado: (2021)

Ethnomedicinal and cultural practices of mammals and birds in the vicinity of river Chenab, Punjab-Pakistan
por: Altaf, Muhammad, et al.
Publicado: (2017)

Prevalence and Spatial Distribution of Animal Brucellosis in Central Punjab, Pakistan
por: Saeed, Usama, et al.
Publicado: (2020)

Prevalence of Anaplasma marginale in cattle blood samples collected from two important livestock regions in Punjab (Pakistan) with a note on epidemiology and phylogeny of parasite
por: Zafar, Shahzadi Noor Ul Ain, et al.
Publicado: (2022)

Assessment of aflatoxin in milk and feed samples and impact of seasonal variations in the Punjab, Pakistan
por: Akbar, Naveed, et al.
Publicado: (2020)

Infection Dynamics of Clostridium perfringens Fingerprinting in Buffalo and Cattle of Punjab Province, Pakistan
por: Zafar Khan, Muhammad Umar, et al.
Publicado: (2022)

Ethnomedicinal applications of animal species by the local communities of Punjab, Pakistan
por: Altaf, Muhammad, et al.
Publicado: (2018)

Psychological Impact of COVID-19 on Doctors and Medical Students of Punjab, Pakistan: A Logistic Regression Analysis
por: Junaid Tahir, Muhammad, et al.
Publicado: (2022)

Diversity of flora used for the cure of equine diseases in selected peri-urban areas of Punjab, Pakistan
por: Goraya, Khurram, et al.
Publicado: (2013)

Taxonomy and distribution of agriculturally important plusiinae (Lepidoptera: Noctuidae) from southern Punjab, Pakistan
por: Sarwar, Zahid Mahmood, et al.
Publicado: (2021)

Fundoscopic Changes in Maroteaux-Lamy Syndrome
por: Magalhães, Augusto, et al.
Publicado: (2019)

Prevalence and antibiotic resistance of Salmonella spp. in South Punjab-Pakistan
por: Qamar, Aftab, et al.
Publicado: (2020)

Demographic and clinical variables in the dengue epidemic in Punjab, Pakistan
por: Mushtaq, Saira, et al.
Publicado: (2023)

Occurrence and Seasonal Variations of Aflatoxin M(1) in Milk from Punjab, Pakistan
por: Akbar, Naveed, et al.
Publicado: (2019)

Plant species diversity assessment and monitoring in catchment areas of River Chenab, Punjab, Pakistan
por: Ali, Muhammad Azhar, et al.
Publicado: (2022)

COVID-19 Pandemic, Determinants of Food Insecurity, and Household Mitigation Measures: A Case Study of Punjab, Pakistan
por: Shahzad, Muhammad Aamir, et al.
Publicado: (2021)

Serological and Molecular Investigation of Coxiella burnetii in Small Ruminants and Ticks in Punjab, Pakistan
por: Ullah, Qudrat, et al.
Publicado: (2019)

Molecular identification of genus Duttaphrynus from Punjab, Pakistan
por: Hussain, Saddam, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_mi250192epmlhq0hjhmfncbr55