Results 71 to 80 of about 1,792 (188)
Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia
, 2015 Ectodermal dysplasia encompasses more than 200 clinically distinct entities, which affect at least two structures derived from the ectoderm, including the skin, hair, nails, teeth, sweat glands, and sebaceous glands.
Cammarata-Scalisi, Francisco +3 more
core +1 more source
A frameshift variant in the EDA gene in Dachshunds with X-linked hypohidrotic ectodermal dysplasia. [PDF]
, 2018 X-linked hypohidrotic ectodermal dysplasia (XLHED) is a genetic disease characterized by hypoplasia or absence of hair, teeth and sweat glands. The EDA gene, located on the X chromosome, encodes the type II transmembrane protein ectodysplasin A. Variants
Welle, Monika Maria +4 more
core +1 more source
Nasal Myiasis in a Female with Christ–Siemens–Touraine Syndrome: A Case Report
Journal of Nepal Medical AssociationEctodermal dysplasia is a rare disease that belongs to a diverse group of inherited monogenic disorders involving defects in one or more ectodermally or mesodermally derived tissues.
Leison Maharjan +3 more
doaj +1 more source
Prosthetic Rehabilitation of a Three-year-old Child with Ectodermal Dysplasia: A Case Report [PDF]
Journal of Clinical and Diagnostic ResearchEctodermal Dysplasia (ED) is a rare congenital syndrome that exhibits defects in two or more ectodermal tissues. Dental manifestations include delayed eruption of permanent dentition, complete absence of teeth or absence of a few teeth, and peg-shaped ...
Yashshwini Shroff +3 more
doaj +1 more source
Associations and outcomes of prenatally detected rhombencephalosynapsis
Prenatal Diagnosis, Volume 44, Issue 10, Page 1159-1169, September 2024.Abstract Objective To describe the association between prenatal imaging and neurodevelopmental outcomes of fetuses with rhombencephalosynapsis (RES). Study design Thirty‐four pregnancies complicated by RES were identified from our institutional databases based on US and/or MRI findings. Genetic testing results were gathered.
Yada Kunpalin +9 more
wiley +1 more source
Molecular aspects of hypohidrotic ectodermal dysplasia [PDF]
American Journal of Medical Genetics Part A, 2009 AbstractHypohidrotic (anhidrotic) ectodermal dysplasia (HED) is a congenital syndrome characterized by sparse hair, oligodontia, and reduced sweating. It is caused by mutations in any of the three Eda pathway genes: ectodysplasin (Eda), Edar, and Edaradd which encode a ligand, a receptor, and an intracellular signal mediator of a single linear pathway,
openaire +2 more sources
Hypohidrotic ectodermal dysplasia: Case reports
, 1999 Hypohidrotic ectodermal dysplasia is a rare congenital syndrome which affects ectodermal structures. It is usually transmitted as an X-linked recessive trait. Rarely it can be transmitted autosomal recessively. Manifestations of this disorder may include
Özkınay, Ferda +2 more
core
, 2017 Ectodermal dysplasia is an abnormality of the ectoderm and its derivatives, phenotypically expressed in males and genetically inherited from mothers. Objective: To report the efficacy of the prosthetics treatment of severe ectodermal dysplasia in a 6 ...
Juliana Feltrin de Souza +5 more
core +2 more sources
The role of partial denture in management of hypohidrotic ectodermal dysplasia
, 2008 Ectodermal dysplasia is a rare hereditary disorder with a characteristic physiognomy. The ectodermal dysplasia constitutes a group of hereditary disorders whose clinical manifestation can be defects in ectodermal structures.
Michael Josef Kridanto Kamadjaja +3 more
core +1 more source
Subtotal amelia in a child with autosomal recessive hypohidrotic ectodermal dysplasia
, 2005 We report an inbred Tunisian family, in which the proband manifested signs of hypohidrotic ectodermal dysplasia, subtotal amelia, scoliosis and left renal agenesis.
Hatem Safi1Mrad Djnziri +5 more
core +1 more source