Cargando…

Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report

INTRODUCTION: Popliteal pterygium syndrome is a congenital malformation that includes orofacial, musculoskeletal and genitourinary anomalies. It is a rare autosomal dominant disorder due to a mutation of the IRF6 gene on 1q32.2. CASE PRESENTATION: A one-month-old Moroccan baby boy was diagnosed with...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ratbi, Ilham, Fejjal, Nawfal, Legendre, Marie, Collot, Nathalie, Amselem, Serge, Sefiani, Abdelaziz
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4320515/ https://www.ncbi.nlm.nih.gov/pubmed/25547932 http://dx.doi.org/10.1186/1752-1947-8-471

Ejemplares similares

Homozygous nonsense mutation of WNT10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report
por: Elalaoui, Siham Chafai, et al.
Publicado: (2021)

The Moroccan human mutation database
por: Ratbi, Ilham, et al.
Publicado: (2008)

Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature
por: El Kadiri, Youssef, et al.
Publicado: (2022)

A recurrent mutation in Moroccan patients with Dyggve-Melchior-Clausen syndrome: Report of a new case and review
por: Elalaoui, Siham Chafai, et al.
Publicado: (2011)

Mowat-Wilson syndrome in a Moroccan consanguineous family
por: Ratbi, Ilham, et al.
Publicado: (2007)

Moroccan consanguineous family with Becker myotonia and review
por: Ratbi, Ilham, et al.
Publicado: (2011)

The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin
por: Ratbi, Ilham, et al.
Publicado: (2015)

Popliteal pterygium syndrome
por: Mahalik, Santosh Kumar, et al.
Publicado: (2010)

Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome
por: Elalaoui, Siham Chafai, et al.
Publicado: (2021)

Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report
por: Adadi, N., et al.
Publicado: (2017)

Syndrome de Silver Russell: à propos de 3 cas et revue de la litterature
por: Lamzouri, Afaf, et al.
Publicado: (2013)

Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report
por: El Kadiri, Youssef, et al.
Publicado: (2021)

Distribution of allelic and genotypic frequencies of NAT2 and CYP2E1 variants in Moroccan population
por: Guaoua, Soukaina, et al.
Publicado: (2014)

Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report
por: Adadi, Najlae, et al.
Publicado: (2018)

Inherited dilated cardiomyopathy in a large Moroccan family caused by LMNA mutation
por: Adadi, Najlae, et al.
Publicado: (2018)

Popliteal pterygium syndrome: A rare syndrome
por: Venkata Mahipathy, Surya Rao Rao, et al.
Publicado: (2018)

Prenatal Sonographic and Molecular Genetic Diagnosis of Popliteal Pterygium Syndrome
por: Traisrisilp, Kuntharee, et al.
Publicado: (2021)

Popliteal Pterygium Syndrome: A Rare Entity
por: Qasim, Muhammad, et al.
Publicado: (2012)

A Japanese family with popliteal pterygium syndrome
por: Katsube, Motoki, et al.
Publicado: (2015)

Popliteal Pterygium With Van Der Woude Syndrome
por: Dobs, Monica, et al.
Publicado: (2021)

Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report
por: Zerkaoui, M., et al.
Publicado: (2015)

Clinical, cytogenetic and molecular findings in nine Moroccan patients with Fanconi anemia
por: Doubaj, Yassamine, et al.
Publicado: (2021)

Cytogenetic Investigation in a Group of Ten Infertile Men with Non-Obstructive Azoospermia: First Algerian 46, XX Syndrome
por: BAZIZ, Meriem, et al.
Publicado: (2016)

Treatment of Popliteal Pterygium Using an Ilizarov External Fixator
por: Kim, Hyoung-Min, et al.
Publicado: (2009)

Renal amyloidosis due to familial mediterranean fever misdiagnosed
por: Hama, Iman, et al.
Publicado: (2012)

Orthopedic Surgical Management of Complicated Congenital Popliteal Pterygium Syndrome: A Case Report
por: Hasan, Meirizal, et al.
Publicado: (2023)

Analysis of Dystrophin Gene Deletions by Multiplex PCR in Moroccan Patients
por: Sbiti, Aziza, et al.
Publicado: (2002)

A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report
por: Doubaj, Yassamine, et al.
Publicado: (2017)

Surgical Correction of Popliteal Pterygium with Serial Splinting: A Case Report and Review of Literature
por: Sewilam, Mohammed, et al.
Publicado: (2021)

Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability
por: Mubungu, Gerrye, et al.
Publicado: (2014)

Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report
por: Sahli, Maryem, et al.
Publicado: (2023)

Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa
por: Butali, Azeez, et al.
Publicado: (2014)

A Complex Intrachromosomal Rearrangement Disrupting IRF6 in a Family with Popliteal Pterygium and Van der Woude Syndromes
por: Al-Kurbi, Alya A., et al.
Publicado: (2023)

High frequency of the recurrent c.1310_1313delAAGA BRCA2 mutation in the North-East of Morocco and implication for hereditary breast–ovarian cancer prevention and control
por: Laarabi, Fatima-Zahra, et al.
Publicado: (2017)

Clinical and molecular report of c.1331 + 1G > A mutation of the AAAS gene in a Moroccan family with Allgrove syndrome: a case report
por: Berrani, H., et al.
Publicado: (2018)

Cystic adventitial disease of the popliteal artery
por: Belmir, Hicham, et al.
Publicado: (2020)

Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6
por: Little, Hayley J., et al.
Publicado: (2009)

Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases
por: Leslie, Elizabeth J., et al.
Publicado: (2013)

A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report
por: Chafai-Elalaoui, Siham, et al.
Publicado: (2015)

Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report
por: Benbouchta, Yahya, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_pca07rqjqunstd43vbobi6mq4v