Results 121 to 130 of about 8,171 (177)

Peripheral giant cell granuloma in a child with ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome: a case report. [PDF]

BMC Oral Health
Kumar A, Srivastava VK, Sonal S, Bhati V.   +3 more
europepmc   +1 more source

Genetic complexity underlies clinical heterogeneity: YWTD β-propeller mutations and second-hit modifier mutations in LRP6-related tooth agenesis and ectodermal dysplasia in human. [PDF]

Genes Dis
Dong X, Yu M, Jia Z, Bai J, Zhang J, Ling S, Guan L, Lu Y, Han D, Gu X.   +9 more
europepmc   +1 more source

Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. [PDF]

Hum Genet
Brooks D, Burke E, Lee S, Eble TN, O'Leary M, Osei-Owusu I, Rehm HL, Dhar SU, Emrick L, Bick D, Nehrebecky M, Macnamara E, Casas-Alba D, Armstrong J, Prat C, Martínez-Monseny AF, Palau F, Liu P, Adams D, Undiagnosed Diseases Network, Lalani S, Rosenfeld JA, Burrage LC.   +22 more
europepmc   +1 more source

Three-Dimensional Modeling and Quantitative Assessment of Mandibular Volume in Ectodermal Dysplasia: A Case Series. [PDF]

Medicina (Kaunas)
Akleyin E, Yavuz Y, Yardımeden A.
europepmc   +1 more source

Prenatal sonographic evidence of hypohidrotic ectodermal dysplasia and postnatal genetic testing of a family line of child. [PDF]

Quant Imaging Med Surg
Lin D, Li H, Tian L, Liu L, Zhang J, Wang Y, Zhang J, Su L, Zeng Q, Wu Q.   +9 more
europepmc   +1 more source

[Ectodermal dysplasia].

Vestnik dermatologii i venerologii, 1985
R A, Kapkaev, E I, Danil'iants, I V, Arzumanova   +2 more
openaire   +1 more source

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Ectodermal dysplasias

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2004
AbstractEctodermal dysplasias are a large group of heritable conditions characterized by congenital defects of one or more ectodermal structures and their appendages: hair (hypotrichosis, partial, or total alopecia), nails (dystrophic, hypertrophic, abnormally keratinized), teeth (enamel defect or absent), and sweat glands (hypoplastic or aplastic ...
Itin PH, Fistarol SK
openaire   +3 more sources

The Ectodermal Dysplasias

Dermatologic Clinics, 1987
In order to be considered an ectodermal dysplasia, a disorder should meet the following criteria: it must be congenital; it must be diffuse (not localized) and must involve the epidermis as well as at least one of its appendages; and it must not be progressive.
L M, Solomon, B, Cook, W, Klipfel
openaire   +2 more sources