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New observation of severe tooth malformation in a female patient with ectodermal dysplasia due to the EDA splice acceptor variant c.742-2A>G.

• Authors : Reinhold V; Institute of Biomedicine, University of Turku, Turku, Finland.; Syrjänen S

Subjects: Anodontia*/Anodontia*/Anodontia*/genetics ; Ectodermal Dysplasia*/Ectodermal Dysplasia*/Ectodermal Dysplasia*/genetics ; Tooth Abnormalities*

• Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Dec; Vol. 11 (12), pp. e2275. Date of Electronic Publication: 2023 Sep 04.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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The Ectodermal Dysplasias-Burden of Disease Score: Development and Validation of an Ectodermal Dysplasia Family/Parental Burden Score.

• Authors : Dufresne H; Department of Dermatology, Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), Filière Maladies Rares Dermatologiques (FIMARAD), ERN-Skin, Hôpital Universitaire Necker- Enfants Malades, Assistance Publique - Hôpitaux de Paris-Centre (AP-HP5), Paris, France.; Maincent O

Subjects: Ectodermal Dysplasia*/Ectodermal Dysplasia*/Ectodermal Dysplasia*/diagnosis ; Ectodermal Dysplasia*/Ectodermal Dysplasia*/Ectodermal Dysplasia*/genetics; Humans

• Source: Acta dermato-venereologica [Acta Derm Venereol] 2023 Aug 30; Vol. 103, pp. adv5203. Date of Electronic Publication: 2023 Aug 30.Publisher: MJS Publishing Country of Publication: Sweden NLM ID: 0370310 Publication Model: Electronic Cited Medium: Internet ISSN: 1651-2057

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A Causal Treatment for X-Linked Hypohidrotic Ectodermal Dysplasia: Long-Term Results of Short-Term Perinatal Ectodysplasin A1 Replacement.

• Authors : Schneider H; Center for Ectodermal Dysplasias & Department of Pediatrics, University Hospital Erlangen, Loschgestr. 15, 91054 Erlangen, Germany.; Schweikl C

Subjects: Ectodermal Dysplasia 1, Anhidrotic*/Ectodermal Dysplasia 1, Anhidrotic*/Ectodermal Dysplasia 1, Anhidrotic*/genetics ; Ectodermal Dysplasia 1, Anhidrotic*/Ectodermal Dysplasia 1, Anhidrotic*/Ectodermal Dysplasia 1, Anhidrotic*/therapy ; Ectodermal Dysplasia*/Ectodermal Dysplasia*/Ectodermal Dysplasia*/genetics

• Source: International journal of molecular sciences [Int J Mol Sci] 2023 Apr 12; Vol. 24 (8). Date of Electronic Publication: 2023 Apr 12.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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A novel mutation in the collagen domain of EDA results in hypohidrotic ectodermal dysplasia by impacting the receptor-binding capability.

• Authors : Liu X; Department of Pediatric Dentistry, Peking University School and Hospital of Stomatology & National Center of Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Laboratory for Digital and Material Technology of Stomatology & Central Laboratory, Peking University School and Hospital of Stomatology, Beijing, China.; Zhao Y

Subjects: Ectodermal Dysplasia 1, Anhidrotic*/Ectodermal Dysplasia 1, Anhidrotic*/Ectodermal Dysplasia 1, Anhidrotic*/genetics ; Ectodermal Dysplasia*/Ectodermal Dysplasia*/Ectodermal Dysplasia*/genetics ; Tooth Diseases*

• Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Apr; Vol. 11 (4), pp. e2119. Date of Electronic Publication: 2022 Nov 29.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Orthodontic and dentofacial orthopedic treatments in patients with ectodermal dysplasia: a systematic review.

• Authors : Cerezo-Cayuelas M; Department of Integrated Pediatric Dentistry, School of Dentistry, Biomedical Research Institute of Murcia, Morales Meseguer Hospital, University of Murcia, Avda. Marqués de los Vélez S/N, 30008, Murcia, Spain.; Pérez-Silva A

Subjects: Ectodermal Dysplasia*/Ectodermal Dysplasia*/Ectodermal Dysplasia*/therapy ; Ectodermal Dysplasia 1, Anhidrotic*; Child, Preschool

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Oct 17; Vol. 17 (1), pp. 376. Date of Electronic Publication: 2022 Oct 17.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Ectodermal Dysplasia – An Overview and Update.

• Authors : Dev, Anubha¹; Malhi, Kittu¹; Mahajan, Rahul¹

• Source: Indian Dermatology Online Journal. May/Jun2024, Vol. 15 Issue 3, p405-414. 10p.

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Severe Cytomegalovirus pneumonia in a child with ectodermal dysplasia.

• Authors : Z., El haddar^1,2 ; A., El ouali^1,2; A., Ghanam^1,2

• Source: European Journal of Pediatric Dermatology. Jul-Sep2024, Vol. 34 Issue 3, p157-159. 3p.

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Ankyloblepharon-ectodermal dysplasia-clefting syndrome: Surgical and medical management in an infant with bilateral corneal perforations.

• Authors : Hossain RR; Department of Ophthalmology, Waikato District Health Board, Hamilton; Department of Ophthalmology, University of Auckland, Auckland, New Zealand.

Subjects: Cleft Lip*/Cleft Lip*/Cleft Lip*/complications ; Cleft Lip*/Cleft Lip*/Cleft Lip*/diagnosis ; Cleft Lip*/Cleft Lip*/Cleft Lip*/surgery Hay-Wells syndrome

• Source: Indian journal of ophthalmology [Indian J Ophthalmol] 2022 Jul; Vol. 70 (7), pp. 2633-2635.Publisher: Medknow Publications Country of Publication: India NLM ID: 0405376 Publication Model: Print Cited Medium: Internet ISSN: 1998-3689

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A large deletion encompassing exon 2 of the ectodysplasin A (EDA) gene in a British blue crossbred calf with hypohidrotic ectodermal dysplasia.

• Authors : Capuzzello G; College of Medical, Veterinary & Life Sciences, University of Glasgow, 464 Bearsden Rd, Glasgow, G61 1QH, UK.; Jacinto JGP

Subjects: Cattle Diseases*/Cattle Diseases*/Cattle Diseases*/genetics ; Ectodermal Dysplasia*/Ectodermal Dysplasia*/Ectodermal Dysplasia*/genetics ; Ectodermal Dysplasia*/Ectodermal Dysplasia*/Ectodermal Dysplasia*/veterinary

• Source: Acta veterinaria Scandinavica [Acta Vet Scand] 2022 Sep 06; Vol. 64 (1), pp. 23. Date of Electronic Publication: 2022 Sep 06.Publisher: BioMed Central Country of Publication: England NLM ID: 0370400 Publication Model: Electronic Cited Medium: Internet ISSN: 1751-0147

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Genome-wide association analysis unveils candidate genes and loci associated with aplasia cutis congenita in pigs.

• Authors : Zhou F; College of Animal Science and National Engineering Research Center for Breeding Swine Industry, South China Agricultural University, Guangdong, 510642, P.R. China.; Wang S

Subjects: Genome-Wide Association Study* ; Ectodermal Dysplasia*/Ectodermal Dysplasia*/Ectodermal Dysplasia*/genetics ; Ectodermal Dysplasia*/Ectodermal Dysplasia*/Ectodermal Dysplasia*/veterinary

• Source: BMC genomics [BMC Genomics] 2023 Nov 21; Vol. 24 (1), pp. 701. Date of Electronic Publication: 2023 Nov 21.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2164

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