research Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
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750-780 / 1000+ results research Muir-torre syndrome in two families in Leicestershire, United Kingdom
Recognizing minor skin lesions can help identify serious cancer syndromes.
research Different Patterns of Lichen Planus in Three Members of One Family
Lichen Planus in siblings may be influenced by genetics and environment.
research 474 Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility
Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
research 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
research An unusual presentation of X-linked adrenoleukodystrophy
A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
research Index of Suspicion
A boy with long QT syndrome was treated successfully, highlighting the need for careful evaluation of chest pain in children for heart conditions like LQTS.
research Severe Hyperandrogenism in A Premenopausal Woman With An Imaging-Negative Leydig Cell Tumor
A woman's severe male hormone excess was caused by a small, hard-to-find ovarian tumor.
research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
research Riboflavin-responsive glutaryl CoA dehydrogenase deficiency
Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
research 475 Paraoxonase 1 (PON1) L55M and Q192R polymorphisms, lipid profiles and psoriasis
The PON1 192R gene variant is linked to a higher risk of psoriasis and heart disease in Western Mexico.
research Progressive Hair Loss and Myocardial Degeneration in Rough Coat Mice: Reduced Lysyl Oxidase-Like (LOXL) in the Skin and Heart
The gene causing hair loss and heart issues in rough coat mice is still unknown.
research Developmental origin of polycystic ovary syndrome - a hypothesis
The hypothesis suggests that PCOS may start early in life due to genetic and environmental factors, influencing future reproductive and metabolic problems.
research Deletion of the epidermis derived laminin γ1 chain leads to defects in the regulation of late hair morphogenesis
Deleting a specific protein in skin cells disrupts normal hair growth and development.
research Two Incidental Sibling Diagnoses of Netherton Syndrome in Separate Visits: A Case Report
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
research Scarring Alopecia With Coexisting Lichen Planus in a Child: A Rare Phenomenon
A child had a rare case of scarring hair loss with skin disease, which is hard to treat and stressful.
research Fluoxetine- and Sertraline-Related Hair Loss in a Teenager: A Case Report
A teenager lost hair due to fluoxetine and sertraline, but it grew back after stopping these drugs and switching to a different one.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research Clouston’s syndrome: a rare case report
Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
research Studying Cytotoxic T-lymphocyte- Associated Antigen-4 (CTLA-4) gene Polymorphism in a Sample of Iraqi Women with Polycystic Ovarian Syndrome
The CTLA-4 gene change studied does not affect Polycystic Ovarian Syndrome in the women tested.
research Olmsted syndrome
Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
research 169 TEDAR, a skin-specific long non-coding RNA, orchestrates the late epidermal differentiation program in the human epidermis
TEDAR is crucial for skin cell differentiation and barrier formation.
research A 7‐Year‐Old Male With a Linear Band‐Like Hair Patch
The boy's hair fully regrew after treatment for a rare hair loss condition.
research Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers.
The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
research Regulation of Mitochondrial Oxidative Metabolism by Tumor Suppressor FLCN
The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
research Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
research Association of follicle-stimulating hormone receptor gene ser680 asn (rs6166) polymorphism with polycystic ovarian syndrome
A certain genetic variation is linked to a higher risk of polycystic ovarian syndrome.
research Dyschromatosis Universalis Hereditaria: Report of a case and Review of the Literature
A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
research MULTIPLE DEFECTS OF THE HAIR SHAFT IN NETHERTON'S DISEASE.
Netherton's disease causes multiple hair defects.