research The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD)
Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
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research Novel tissue mechanics-guided cellular flows drive the formation of feather follicles
Feather follicles form through specific cellular flows and mechanical changes in the skin.
research Bloch-Sulzberger Syndrome: A Rare X-Linked Dominant Genetic Disorder in a Newborn
Early diagnosis of Bloch-Sulzberger Syndrome is crucial to prevent severe complications.
research Familial congenital generalized hypertrichosis
A girl inherited excessive body hair from her mother and grandmother.
research Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity
Monilethrix is linked to the type II keratin gene on chromosome 12q13.
research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
research Eruptive Vellus Hair Cyst
Eruptive vellus hair cysts are harmless skin bumps that may go away on their own.
research Ichthyosis follicularis with alopecia and photophobia (IFAP): late diagnosis in 18‐year‐old man
An 18-year-old man was diagnosed with a rare genetic disorder causing hair loss, severe light sensitivity, and skin issues.
research Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
research Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia
Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
research An X-Linked Gene Involved in Androgenetic Alopecia: A Lesson to Be Learned from Adrenoleukodystrophy
Gene linked to common hair loss found, may lead to new treatments.
research Characterization of X‐linked hypohidrotic ectodermal dysplasia (XL‐HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging
People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
research Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family
A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
research Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis
FGF13 gene changes cause excessive hair growth in a rare condition.
research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
research Ichthyosis
The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
research Protoporphyrin IX: the Good, the Bad, and the Ugly
Protoporphyrin IX is useful in cancer treatment but can cause health problems if not properly regulated.
research Keratosis follicularis spinulosa decalvans in a female
A rare genetic skin condition usually affecting males was found in a 9-year-old girl.
research Ectodermal Dysplasia: Otolaryngologic Manifestations and Management
Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.
research XEDAR activates the non-canonical NF-κB pathway
XEDAR triggers a specific signaling pathway in cells.
research Postgraduate seminar in pediatric dermatology
Experts discussed treatments for skin conditions in children, emphasizing hydration, cautious medication use, and early intervention for infections.
research Disorders of Keratinization
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
research A BIOCHEMICAL MARKER IN A DOMINANT MOUSE TRAIT
The Naked (N) trait in mice is linked to lower glycine and tyrosine in hair proteins.
research Autosomal Dominant Obstructive Sleep Apnea Syndrome Due to the New Variant c.980_984dup in COL1A2: A Case Report
Obstructive sleep apnea can be hereditary and linked to a genetic mutation in the COL1A2 gene.
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
research New developments in the molecular treatment of ichthyosis: review of the literature
New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
research Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
research Association of Rs231775 Genetic Variant of Cytotoxic T-lymphocyte Associated Protein 4 with Alopecia Areata Disease in Males: A Case–Control Study
The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.