research 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population.
A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
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180-210 / 1000+ resultsresearch Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing
Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
research Application of Acyzol in the Context of Zinc Deficiency and Perspectives
Acyzol could help treat conditions caused by zinc deficiency.
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 Hoxc13 mutant mice lack external hair
Hoxc13 gene is essential for hair, nail, and papilla development.
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 A homozygous single T deletion found in the GGCX gene with PXE-like phenotypes
A gene mutation worsens skin irritation in mice due to a lack of certain fats.
research Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen
The research identified new skin traits in mice, some linked to human skin conditions.
research Characterization of a mouse Scube3 reporter line
Mouse Scube3 affects teeth, tongue, vibrissae, and eye development, but not facial structure or limb growth.
research Congenital Generalized Hypertrichosis Terminalis with Gingival Hyperplasia and a Coarse Face: a Case Report
A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
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 Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
research Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations
CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
research Table 2_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx
Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica in infants.
research Alopecia X in a cloned Pomeranian dog
Alopecia X in Pomeranians is likely genetic, not environmental.
research Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1
A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
research MALE PSEUDOHERMAPHRODITISM DUE TO 17β-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY: STUDIES ON THE NATURAL HISTORY OF THE DEFECT AND EFFECT OF ANDROGENS ON GENDER ROLE
Masculinization in affected individuals occurs gradually after puberty due to hormone changes.
research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
research SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
research Hair Anomalies in a 6-Year-Old Girl
A 6-year-old girl was diagnosed with a rare hair disorder called monilethrix.
research INVESTIGATIONS INTO THE ROLE OF THE X-LINKED EPIGENETIC REGULATOR UTX (KDM6A) IN SELF-RENEWING STRATIFYING EPITHELIA
UTX is important for skin health and its loss can lead to skin issues, especially in females.
research NEW YORK ACADEMY OF MEDICINE, SECTION ON DERMATOLOGY AND SYPHILIS
An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
research Monilethrix in three generations
Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.
research A medicinal and edible formula YH0618 ameliorates the toxicity induced by Doxorubicin via regulating the expression of Bax/Bcl-2 and FOXO4
The formula YH0618 can reduce the harmful side effects of the chemotherapy drug Doxorubicin and protect healthy cells.
research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
research FOX FORDYCE DISEASE IN A PREPUBERTAL GIRL
A 10-year-old girl with Fox Fordyce disease improved with treatment, suggesting the disease can occur before puberty and might be underdiagnosed in young girls.
research A polygenic mouse model of psoriasiform skin disease in CD18-deficient mice.
CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
research Variant 1859G→A (Arg620Gln) of the “Hairless” Gene: Absence of Association with Papular Atrichia or Androgenetic Alopecia
Haplogroup X found in Altaian population supports Amerindian origin.
research Dynamic expression of Runx1 in skin affects hair structure
Runx1 is crucial for proper hair structure and development.
research P448: Identification of a novel RPS6KA3 variant in a female child with features of Coffin-Lowry syndrome: A case study
A new gene variant in a girl with Coffin-Lowry Syndrome may link the condition to early puberty.