Results 251 to 260 of about 168,874 (283)
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A novel de novo mutation substantiates KDF1 as a gene causing ectodermal dysplasia
British Journal of Dermatology, 2019ectodermal dysplasia (ED) is a group of hereditary disorders affecting the development of ectodermal organs. There are more than 200 types of ED caused by the mutations in approximately 50 genes.1, 2 Nonetheless, the mutations in some genes have been ...
C. Manaspon +5 more
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Acta Paediatrica, 1952
SummaryTwo case reports of ectodernial dysplasia in two females are presented. One case is believed to be the first reported with evidence of direct descent from mother to daughter. The other is a case of the mendelian dominant type. The submission is made that the anhydrotic type is not necessarily always a sex‐linked recessive manifestation in males ...
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SummaryTwo case reports of ectodernial dysplasia in two females are presented. One case is believed to be the first reported with evidence of direct descent from mother to daughter. The other is a case of the mendelian dominant type. The submission is made that the anhydrotic type is not necessarily always a sex‐linked recessive manifestation in males ...
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ANHIDROTIC ECTODERMAL DYSPLASIA
International Journal of Dermatology, 1978ABSTRACT: Five patients with anhidrotic ectodermal dysplasia are reported from India.
B. S. N. REDDY +3 more
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Anhidrotic Ectodermal Dysplasia
Plastic and Reconstructive Surgery, 1980A diagnosis of anhidrotic ectodermal dysplasia should be considered for patients with an undeveloped breast or other deformities. Recognition of the syndrome can lead to necessary and helpful genetic counseling and will ensure that other members of the family, who may also be affected by the syndrome, are under proper care.
R A, Ersek, H, Labandter, L, King
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Hypohidrotic ectodermal dysplasia: a case report
Orbit, 2019Hypohidrotic ectodermal dysplasia is a common variation of ectodermal dysplasia, characterized by hypohidrosis (or anhidrosis), hypotrichosis, hypodontia, and other distinct facial features.
S. Chandravanshi
semanticscholar +1 more source
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
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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
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Digital Medicine, 2015
ABSTRACT Ectodermal dysplasia (ED) results from abnormalities of the ectodermal structures such as hairs, teeth, nails, sweat glands, craniofacial structures, digits and other parts of the body. More than 200 different syndromes have been identified. It inherits as
Sunil Gothwal, Swati Nayan
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ABSTRACT Ectodermal dysplasia (ED) results from abnormalities of the ectodermal structures such as hairs, teeth, nails, sweat glands, craniofacial structures, digits and other parts of the body. More than 200 different syndromes have been identified. It inherits as
Sunil Gothwal, Swati Nayan
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Revue medicale de Liege, 2003
The ectodermal dysplasias form a heterogeneous group of rare and complex genetic diseases with different ectodermal derivates abnormalities. The aim of this paper is to present briefly the anhidrotic form or Christ-Siemens-Touraines's syndrome and the hidrotic form or Clouston's syndrome.
C Marques, Da Costa, M, de la Brassinne
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The ectodermal dysplasias form a heterogeneous group of rare and complex genetic diseases with different ectodermal derivates abnormalities. The aim of this paper is to present briefly the anhidrotic form or Christ-Siemens-Touraines's syndrome and the hidrotic form or Clouston's syndrome.
C Marques, Da Costa, M, de la Brassinne
openaire +1 more source