research Hair changes due to zinc deficiency in a case of sucrose malabsorption
Zinc supplements improved the girl's hair growth and thickness.
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150-180 / 1000+ resultsresearch A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.
A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity.
A point mutation in the androgen receptor gene causes complete androgen insensitivity.
research Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
research Late presentation of biotinidase deficiency with acute visual loss and gait disturbance
Biotinidase deficiency can cause vision and walking problems in children and can improve with biotin treatment.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research AUTOSOMAL DOMINANT INHERITANCE OF ALOPECIA CONGENITA WITH KERATOSIS PALMO-PLANTARIS
research Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
A mutation in the KRT86 gene causes hair fragility in a Turkish family.
research Phenotypic variation in biotinidase deficiency
Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
research Multiorgan Dysfunction in a 7-Month-Old Boy With Developmental Delay and Poor Growth
Early detection and treatment of Menkes disease with copper injections are crucial for better outcomes.
research Correction of ornithine transcarbamylase (OTC) deficiency in spf‐ash mice by introduction of rat OTC gene
Introducing the rat OTC gene partially corrected OTC deficiency in mice.
research ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
research Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
The patient's hair was thinner and had fewer lipids due to a genetic mutation.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research Berardinelli–Seip syndrome
Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
research Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotide
research 190 Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Not having enough cystatin M/E protein causes less hair growth and dry skin.
research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil
Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
research FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis
A rare genetic mutation found in an Indian family can be detected through prenatal screening.
research 420 Severe thiopurine-induced myelotoxicity and hair loss in Japanese patients with NUDT15 gene variant: A retrospective case-control study
Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.
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 Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice
Reduced matriptase activity causes skin and hair issues in both humans and mice.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research Selective complete Clq deficiency associated with systemic lupus erythematosus.
Clq deficiency is linked to systemic lupus erythematosus symptoms.
research Fatal autoimmunity results from the conditional deletion of Snai2 and Snai3
Deleting Snai2 and Snai3 causes fatal autoimmunity.
research P78 Acrodermatitis enteropathica in children: clinical cases
Zinc supplements and genetic analysis help treat acrodermatitis enteropathica in children.