Results 41 to 50 of about 1,144,906 (160)
Clouston’s syndrome: a rare case report
International Journal of Research in Dermatology, 2020 <p>Ectodermal dysplasias are a heterogeneous group of disorders with primary defect in hair, teeth, nail and sweat glands with an estimated frequency of about seven per 10,000 births. Numerous types have been described and several classifications exist. Clouston’s syndrome (hidrotic ectodermal dysplasia) is a rare genodermatoses, characterized by
Siddalingappa Karjigi +3 more
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Clouston Syndrome (Hidrotic Ectodermal Dysplasia) Is Not Linked to Keratin Gene Clusters on Chromosomes 12 and 17 [PDF]
, 1996 Clouston syndrome is an hidrotic form of ectodermal dysplasia, inherited as an autosomal dominant trait with high penetrance. The main features of the disorder are alopecia, severe dystrophy of the nails, and palmoplantar hyperkeratosis.
Susan J. Hayflick +5 more
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Brazilian Journal of Medical and Biological Research, 2018 We constructed lentiviral vectors containing the human wild-type GJB6 gene and the mutant variants A88V and G11R. The three proteins were stably expressed by the Tet-on system in the HaCaT cell line and used to study the functional effect of the variants.
Yuting Lu +10 more
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Clouston's hidrotic ectodermal dysplasia
The Pan African Medical Journal, 2018 A 2-year-old girl, from a consanguineous and phenotypically normal family. Her mother who brought her to our institution reporting that the child had hair loss, scanty eyelashes and eyebrows since she was two months old.
Ahmed Bouhamidi, Mohammed Boui
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Česká Stomatologie a Praktické Zubní Lékařství, 2013 Background: Ectodermal dysplasia is a rare, genetically determined disease, which is characterized by alterations in two or more ectodermal structures, at least one of these involving alterations in hair, teeth, nails, or sweat glands.
L. Kramerová, E. Kaplová
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On site 2 : Bruce Armstrong, Paul Boston, Alison Clouston, Susan Norrie [PDF]
, 1986 On site 2 : Bruce Armstrong, Paul Boston, Alison Clouston, Susan Norrie Catalogue of exhibition held at the Centre for the Arts Gallery, Oct. 17-31, 1986.
Armstrong, B +3 more
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Pregnancy, Volume 2, Issue 3, May 2026.Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
, 2003 Background: Clouston syndrome is an autosomal dominant disorder characterized by nail dystrophy, partial or total alopecia, and hyperkeratosis of the palms and soles.
Edward F. McClay +4 more
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Cochrane Evidence Synthesis and Methods, Volume 3, Issue 4, July 2025.ABSTRACT Background Systematic reviews are essential but time‐consuming and expensive. Large language models (LLMs) and artificial intelligence (AI) tools could potentially automate data extraction, but no comprehensive workflow has been tested for different review types.
T. Helms Andersen +4 more
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Brain and Behavior, Volume 15, Issue 1, January 2025.ABSTRACT Background and Objectives Guillain–Barré syndrome (GBS), an acute inflammatory disorder of the peripheral nervous system, is characterized by muscle weakness and paralysis. Prompt identification of patients at a high risk of poor outcomes is crucial for timely intervention.
Yi‐Hsiang Chen +3 more
wiley +1 more source