Results 221 to 230 of about 18,314 (251)
Patient with “Lobster Claw” Hands and Feet: Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
Á. León-Mateos+4 more
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Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature. [PDF]
Kablan A, Tasdelen E.
europepmc +1 more source
Ectodermal organ development : Regulation by Notch and Eda pathways [PDF]
Mustonen, Tuija
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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.
Lawrence M. Solomon+2 more
openaire +2 more sources
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.
Lawrence M. Solomon+2 more
openaire +2 more sources
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 ...
Peter H, Itin, Susanna K, Fistarol
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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 ...
Peter H, Itin, Susanna K, Fistarol
openaire +2 more sources
ANHIDROTIC ECTODERMAL DYSPLASIA [PDF]
ABSTRACT: Five patients with anhidrotic ectodermal dysplasia are reported from India.
Gurmohan Singh+3 more
openaire +2 more sources