Cargando…

Ectrodactyly-ectodermal dysplasia-clefting syndrome with unusual cutaneous vitiligoid and psoriasiform lesions due to a novel single point TP63 gene mutation

Detalles Bibliográficos
Autores principales:	Wawrzycki, Bartłomiej, Pietrzak, Aldona, Chodorowska, Grażyna, Filip, Agata A., Petit, Veronique, Rudnicka, Lidia, Dybiec, Ewa, Rakowska, Adriana, Sobczyńska-Tomaszewska, Agnieszka, Kanitakis, Jean
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Termedia Publishing House 2018
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6640015/ https://www.ncbi.nlm.nih.gov/pubmed/31333354 http://dx.doi.org/10.5114/ada.2018.73437

Ejemplares similares

Gene p63: In ectrodactyly-ectodermal dysplasia clefting, ankyloblepharon-ectodermal dysplasia, Rapp-Hodgkin syndrome
por: van Straten, Cornelia, et al.
Publicado: (2013)

Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome)
por: Marwaha, Mohita, et al.
Publicado: (2012)

Hypothalamo−Pituitary Insufficiency Associated with Ectrodactyly−Ectodermal Dysplasia−Clefting Syndrome
por: Hatipoğlu, Nihal, et al.
Publicado: (2009)

Association of generalized aggressive periodontitis and ectrodactyly-ectodermal dysplasia-cleft syndrome
por: Joseph, Rosamma, et al.
Publicado: (2012)

Management of Severely Atrophic Maxilla in Ectrodactyly Ectodermal Dysplasia-cleft Syndrome
por: Rachmiel, Adi, et al.
Publicado: (2018)

A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome
por: Alves, Leandro Ucela, et al.
Publicado: (2015)

Holoprosencephaly in an Egyptian baby with ectrodactyly-ectodermal dysplasia-cleft syndrome: a case report
por: Metwalley Kalil, Kotb Abbass, et al.
Publicado: (2012)

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome: A case report of “Incomplete syndrome”
por: Shivaprakash, P. K., et al.
Publicado: (2012)

Ocular Manifestations of Ectrodactyly-Ectodermal Dysplasia-Cleft Palate (EEC) Syndrome: A Case Report
por: Mohd Jais, Mohammad Fahim, et al.
Publicado: (2023)

A novel de novo TP63 mutation in whole‐exome sequencing of a Syrian family with Oral cleft and ectrodactyly
por: Simpson, Claire L., et al.
Publicado: (2023)

Developmental glaucoma in a patient of ectrodactyly-ectodermal dysplasia
por: Rewri, Parveen, et al.
Publicado: (2020)

Case report: Prenatal diagnosis of Ectrodactyly–Ectodermal dysplasia–Cleft syndrome (EEC) in a fetus with cleft lip and polycystic kidney
por: Biwei, He, et al.
Publicado: (2022)

Interleukin-22 and Its Correlation with Disease Activity in Plaque Psoriasis
por: Wawrzycki, Bartłomiej, et al.
Publicado: (2018)

Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination
por: Sharma, Deepak, et al.
Publicado: (2015)

Bilateral congenital lacrimal fistulas in an adult as part of ectrodactyly-ectodermal dysplasia-clefting syndrome: A rare anomaly
por: Ghosh, Debangshu, et al.
Publicado: (2015)

19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia‐clefting syndrome phenotype
por: Abe, Kikue Terada, et al.
Publicado: (2018)

SIBLINGS AFFECTED BY ECTRODACTYLY-ECTODERMAL DYSPLASIA AND CLEFT LIP/PALATE (EEC) SYNDROME PRESENTING NORMAL PARENTS: GERMLINE MOSAICISM?
por: Rosa, Rafael Fabiano Machado, et al.
Publicado: (2017)

Ectrodactyly-Ectodermal Dysplasia Clefting Syndrome: A Case Report of Its Dental Management with 2 Years Follow-Up
por: Bharati, Anamika, et al.
Publicado: (2020)

Ultrasound findings in cutaneous sarcoidosis
por: Dybiec, Ewa, et al.
Publicado: (2015)

Cutaneous larva migrans syndrome: a case report
por: Tekely, Emilia, et al.
Publicado: (2013)

Mosaic TP63 variant and associated ectodermal dysplasia features
por: Chen, Vivien, et al.
Publicado: (2021)

A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect–cleft lip/palate syndrome and Rapp–Hodgkin syndrome-like ectodermal dysplasia
por: Hori, Asuka, et al.
Publicado: (2022)

Ankyloblepharon-ectodermal Defects-cleft Lip-palate Syndrome Due to a Novel Missense Mutation in the SAM Domain of the TP63 Gene
por: Tajir, M, et al.
Publicado: (2020)

Vitiligoid hypopigmentation associated with pembrolizumab in metastatic head and neck cancer
por: Bulbul, Ajaz
Publicado: (2019)

EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report
por: Otsuki, Yuki, et al.
Publicado: (2020)

Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up
por: Serra, Gregorio, et al.
Publicado: (2021)

Lipid Disturbances in Psoriasis: An Update
por: Pietrzak, Aldona, et al.
Publicado: (2010)

Identification of a novel TP63 mutation causing nonsyndromic cleft lip with or without cleft palate
por: Xu, Tianhui, et al.
Publicado: (2021)

Ectrodactyly-lobster claw deformity
por: Kumar, Sarath Kumar Udaya, et al.
Publicado: (2021)

Familial cleft tongue caused by a unique translation initiation codon variant in TP63
por: Schmidt, Julia, et al.
Publicado: (2021)

Ectrodactyly/split hand feet malformation
por: Jindal, Geetanjali, et al.
Publicado: (2009)

A Case of Ectrodactyly in a Neonate
por: Kalathia, Mitul B., et al.
Publicado: (2013)

Structural and functional foot disorders in patients with genodermatoses: a single-centre, retrospective chart review
por: Pietrzak, Aldona, et al.
Publicado: (2022)

Social support and adaptation to the disease in men and women with psoriasis
por: Janowski, Konrad, et al.
Publicado: (2012)

Amniotic Band Syndrome with Ectrodactyly-Two Cases
por: Baria, Mohabat D.
Publicado: (2020)

Videocapillaroscopic Alterations in Alopecia Areata
por: Gerkowicz, Agnieszka, et al.
Publicado: (2013)

The apical ectodermal ridge of the mouse model of ectrodactyly Dlx5;Dlx6(−/−) shows altered stratification and cell polarity, which are restored by exogenous Wnt5a ligand
por: Conte, Daniele, et al.
Publicado: (2016)

Goltz Syndrome: A Newborn with Ectrodactyly and Skin Lesions
por: Sarkar, Shatanik, et al.
Publicado: (2015)

Pioneer and repressive functions of p63 during zebrafish embryonic ectoderm specification
por: Santos-Pereira, José M., et al.
Publicado: (2019)

Prenatal Diagnosis of Ectrodactyly in the First Trimester by Three-Dimensional Ultrasonography
por: Blitz, Matthew J., et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_opvo492k4edppup40ruju8g76p