research Madarosis from mitochondriopathy
Mitochondriopathy may cause eyelash loss.
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720-750 / 1000+ resultsresearch Uncombable hair in a case of Zellweger syndrome – A new association
Uncombable hair syndrome is linked to Zellweger syndrome.
research Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
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 A case of congenital pili multigemini
A rare, harmless hair condition was found in an infant's eyebrow, needing no treatment.
research A mutation in MAP2 is associated with prenatal hair follicle density
A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.
research Value of dermoscopy for the diagnosis of monilethrix
Dermoscopy helped diagnose a rare hair disorder in a 2-year-old boy.
research Disorders of Sex Development
DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.
research Hereditary mucoepithelial dysplasia: unique histopathological findings in skin lesions
The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research Photosensitive Trichothiodystrophy with Complex Cerebral Abnormalities
Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
research A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
New mutations in the DSG4 gene cause a rare hair condition.
research DNMT1 targets SRD5A2 to induce mitochondrial homeostasis and EMT in urothelial cells of hypospadias
DNMT1 may help treat hypospadias by improving cell function and preventing unwanted cell changes.
research Pruritic urticarial papules and plaques of pregnancy
The skin condition PUPP usually gets better on its own after giving birth and is unlikely to happen again in future pregnancies.
research Pearly Pinna Papules in a Young Female
The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
research A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis
A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.
research Role of EZH2 in Uterine Gland Development
EZH2 is crucial for uterine gland development and female fertility.
research Keratoma Hereditaria Mutilans (Vohwinkel's Disease) with Congenital Alopecia Universalis (Atrichia Congenita)
Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
research Development and Molecular Characterization of Human Placental Mesenchymal Stem Cells from Human Aborted Fetal Tissue as a Model to Study Mechanism of Spontaneous Abortion
Placenta-derived stem cells can help study and treat spontaneous abortion.
research Recurrent Pregnancy Loss Associated Cytogenetic and Genetic Anomalies – Study from Eastern India
Genetic variations contribute to over 10% of recurrent early pregnancy loss cases.
research Familial Nonmembranous Aplasia Cutis of the Scalp
Some families have a genetic condition where they are born with irregular scalp defects.
research Omenn syndrome in a 10-month-old male with athymia and VACTERL association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
research NovelPAX9mutation associated with syndromic tooth agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
research Hypotrichosis congenita of Marie Unna
A 54-year-old woman experienced progressive hair loss starting in adolescence, leading to sparse scalp hair and almost no eyebrows or eyelashes.
research Decision letter: Deletion of the MAD2L1 spindle assembly checkpoint gene is tolerated in mouse models of acute T-cell lymphoma and hepatocellular carcinoma
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research Uncombable hair syndrome and beyond
Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
research Complex X chromosome rearrangement associated with multiorgan autoimmunity
A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
research Marie‐Unna Hereditary Hypotrichosis: Case Report and Review of the Literature
Marie-Unna Hereditary Hypotrichosis is a rare genetic condition causing sparse hair growth, requiring specific recognition for proper care.
research Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation
Msx2 deficiency in mice leads to bone growth and organ development problems.