research X linked mental retardation.
X-linked mental retardation includes various syndromes with both mental and physical abnormalities.
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840-870 / 1000+ resultsresearch Abstract C4: Sp2: A regulator of stem cell differentiation and tumorigenesis
Over-expression of Sp2 can lead to cancer by preventing proper stem cell differentiation.
research Deletion of hypoxia-inducible factor prolyl 4-hydroxylase 2 in FoxD1-lineage mesenchymal cells leads to congenital truncal alopecia
Removing a specific gene in certain skin cells causes hair loss on the body by disrupting normal hair development.
research The effects of sodium metasilicate on the spinal motoneuron recovery following sciatic nerve injury
Sodium metasilicate improved spinal motoneuron recovery after sciatic nerve injury in rats.
research Odontogenic Keratocysts Arise from Quiescent Epithelial Rests and Are Associated with Deregulated Hedgehog Signaling in Mice and Humans
Odontogenic keratocysts are caused by abnormal Hedgehog signaling and can lead to tooth and bone issues.
research [Black piedra in South Africa. 1st description in a child with bamboo hair, pili torti and congenital erythroderma ichthyosiforme].
research Rare Coexistence of Monilethrix and Trichorrhexis Nodosa in a Pediatric Patient: A Case Report
A 6-year-old girl had both monilethrix and trichorrhexis nodosa, causing brittle hair, with minimal improvement from treatment.
research Hereditary Hypotrichosis and Localized Morphea: A New Clinical Entity
A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.
research 3D analysis of facial morphology in Dutch children with cancer
Children with cancer had slightly more unusual facial shapes than healthy kids, but not enough to easily tell them apart.
research Coexistence of psoriasis, and alopecia areata with trachyonychia in a pediatric patient with Turner Syndrome
A 6-year-old girl with Turner syndrome also had psoriasis, alopecia areata, and trachyonychia.
research Cutaneous Manifestations of Endocrine Disease
Endocrine diseases in children can cause various skin and hair changes.
research Caracterización de signos cutáneos y sus anexos, en niños menores de 5 años con desnutrición severa
Severe malnutrition in young children causes various skin and nail issues, mainly pigmentation changes and extreme thinness.
research Dermatopathology and molecular genetics
Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
research Demethylation of ITGAV accelerates osteogenic differentiation in a blast-induced heterotopic ossification in vitro cell culture model
Removing a methyl group from the ITGAV gene speeds up bone formation in a specific type of bone disease model.
research Mesenchymal cell specific deletion of Tsc2 regulates hair follicle development and patterning
TSC2 is crucial for proper hair follicle development and patterning.
research Inborn Errors of Biotin Metabolism
Two enzyme defects in biotin metabolism cause severe skin, hair, and metabolic issues.
research Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats
Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
research PA13 A hair’s breadth from misdiagnosis
A 15-year-old boy was correctly diagnosed with a rare skin condition after initially being misdiagnosed.
research Acquired Structural Defects of the Hair
External factors like certain shampoos, bacterial infections, and parasites might cause hair defects similar to genetic conditions.
research Gutartige epitheliale Neubildungen in der Haut des Hundes
Benign epithelial tumors in dogs don't spread or become cancerous.
research Cutaneous Ultrastructural Features of the Flaky Skin (fsn) Mouse Mutation
The flaky skin mouse mutation is a natural model for studying human psoriasis.
research Porokeratotic adnexal ostial nevus: a paradigm of cutaneous mosaicism
PAON shows skin patterns due to genetic mosaicism.
research PRZYPADEK POLEKOWEJ MARTWICY ŻUCHWY (MRONJ)
Bisphosphonate therapy can cause jawbone necrosis, so dental care is crucial before and during treatment.
research Nevus lipomatosus cutaneous superficialis with perifollicular fibrosis.
A rare skin condition in a baby showed unusual fat and hair follicle changes.
research E58 The rheumatologic masquerader: a case report on SLE-dermatomyositis-systemic scleroderma overlap syndrome
Early referral to a pediatric rheumatologist and thorough evaluation are crucial for treating complex overlap syndromes effectively.
research Decision letter: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
research Parry Romberg Syndrome: When the Diagnosis of a Rare Disease Is Made in the Primary Care Setting
Parry Romberg syndrome requires awareness and teamwork in primary care for proper diagnosis and management.
research Hipertricose generalizada exuberante em um lactente: relato de caso
An infant developed excessive hair growth after a bone marrow transplant and cyclosporine treatment.
research 1465 Optimization/characterization of a Focal Dermal Hypoplasia mouse model to test potential treatments
Li2CO3 improved skin disease in a mouse model of Focal Dermal Hypoplasia without toxicity.
research Hair Shaft Abnormalities as a Dermoscopic Feature of Mycosis Fungoides: Pilot Results
Hair shaft abnormalities can help distinguish mycosis fungoides from other skin conditions.