research X linked mental retardation.
X-linked mental retardation includes various syndromes with both mental and physical abnormalities.
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660-690 / 1000+ resultsresearch MITF E318K naevus phenotype: the modifying role of MC1R Red Hair Variants
research Frontal fibrosing alopecia among men: A clinicopathologic study of 7 cases
Men with Frontal fibrosing alopecia typically lose hair on the front scalp and sometimes on sideburns and upper lip, with treatments showing varied success.
research Enhanced Insights into Frontal Fibrosing Alopecia: Advancements in Pathogenesis Understanding and Management Strategies
Frontal Fibrosing Alopecia needs better diagnostics and treatments, with dutasteride showing promise.
research PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS)
NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.
research Fibrothecoma of Ovary with Virilizing Features
A rare ovarian tumor can cause unusual male-like symptoms, but surgery usually leads to a good outcome.
research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
research 917 Frontal fibrosing alopecia scalp profiling links Th1/Th2 and JAK3 activation with fibrosis and loss of follicular stem cells
Targeting immune pathways like JAK/STAT may help treat frontal fibrosing alopecia.
research Reversal of Canities in a Patient With Frontal Fibrosing Alopecia
A woman with hair loss condition experienced rare hair color return, suggesting it might help diagnose the condition.
research Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother
The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.
research Cronkhite-Canada syndrome: case description
An 80-year-old woman with Cronkhite-Canada syndrome had multiple polyps and symptoms like diarrhea, hair loss, nail issues, and dark skin.
research Björnstad Syndrome With Late‐Onset Alopecia Mimicking Androgenetic Alopecia: Histopathological and Genetic Findings
Björnstad syndrome can cause hair loss similar to androgenetic alopecia, and treatment with baricitinib and minoxidil may help.
research A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A specific gene mutation causes sparse, brittle hair in a family.
research CONGENITAL ATRICHIA.*
Congenital atrichia is a rare condition where children are born without hair, and treatment is often ineffective.
research Cronkhite-Canada Syndrome (CCS)—A Rare Case Report
Cronkhite-Canada syndrome is a rare, non-inherited condition causing various symptoms like polyps, hair loss, and weight loss.
research Papillon–Lefèvre Syndrome: A Rare Case Report of Two Brothers and Review of the Literature
Papillon-Lefèvre Syndrome causes early tooth loss and skin issues, needing early dental diagnosis.
research FLCN regulates transferrin receptor 1 transport and iron homeostasis
FLCN helps control iron levels in cells.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review
DPR can show different hair characteristics, as seen in two brothers with normal hair.
research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research GREASY SCALING PITYRIASIS AMIANTACEA AND ALOPECIA: A SYNDROME IN SEARCH OF A CAUSE
The cause of the syndrome with scalp scaling and hair loss is unknown.
research Alopecia fibrosante frontal
Frontal fibrosing alopecia causes hairline recession and eyebrow loss in postmenopausal women.
research Frontal Fibrosing Alopecia Part II: Etiopathogenesis and Management
Early diagnosis and a multidisciplinary approach are crucial for managing Frontal Fibrosing Alopecia.
research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research Facial and Extrafacial Lesions in an Ethnically Diverse Series of 91 Patients with Frontal Fibrosing Alopecia Followed at a Single Center
Most patients with frontal fibrosing alopecia had facial bumps, with Hispanic/Latino and premenopausal women being more affected, suggesting a more severe condition.
research A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A gene deletion in DSG4 causes sparse hair in some Pakistani families.
research Sparse Brittle Hair and Bilateral Temporal Alopecia in a Child
A 2-year-old boy has a rare hair disorder causing brittle hair and hair loss, which may improve with age.
research Description of clinical aspects and microscopy of the hair shaft of a carrier of familial monilethrix
Monilethrix causes brittle hair and hair loss, and it runs in families.
research A New Case of Isolated Trichothiodystrophy
A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
research Papular atrichia
An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.