research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
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research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
research 46,XY DSD due to impaired androgen production
Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
research Study of Human Leukocyte Antigen ( HLA ) in 13 cases of familial frontal fibrosing alopecia: CYP 21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA ‐ A*33:01 ; B*14:02; C*08:02 as a genetic marker
A genetic marker linked to a type of hair loss was found in most patients studied.
research Congenital triangular alopecia
Congenital triangular alopecia is more common than thought and some treatments can be beneficial for appearance concerns.
research Detection of five substitution TPO mutations in Polycystic Ovary Syndrome (PCOS) and thyroid hormones disturbance patients
Five different TPO gene mutations were found in PCOS patients with thyroid hormone issues.
research Virilism and Ectopic Expression of HSD17B5 in Mature Cystic Teratoma
A woman's mature cystic teratoma caused her virilization by producing testosterone.
research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
research Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting
Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
research Isotretinoin-unresponsive acne as a sign of a congenital disorder: a case of 21-hydroxylase deficiency
Acne not improved by usual treatments may indicate a genetic disorder.
research Congenital hair loss disorders: Rare, but not too rare
Some hair loss disorders are caused by genetic mutations affecting hair growth.
research Unusual Dermatologic Findings in an Extremely Low Birthweight Infant: The Genetic Diagnosis
An extremely low-birthweight infant had a rare genetic skin disease and died despite treatment.
research Congenital triangular alopecia - A case report
Congenital triangular alopecia is a hair loss condition present from birth or early childhood with no effective treatment needed.
research Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
research Rippled‐pattern trichomatricoma
A unique hair tumor with a rippled pattern was identified, showing incomplete differentiation and unusual cell arrangements.
research Identification of the Ovine Keratin-Associated Protein 21-1 Gene and Its Association with Variation in Wool Traits
The KRTAP21-1 gene affects wool yield and can help improve wool production.
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 Enhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia
Combining genetic and physical data improves diagnosis and treatment for early-onset monogenic diabetes.
research Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
A new genetic mutation in the hairless gene causes a rare hair loss disorder.
research Short anagen syndrome in a girl with curly dark hair and consanguineous parents
A 3-year-old girl has short anagen syndrome, causing her hair to stay short.
research Congenital triangular alopecia: A close mimicker of alopecia areata
CTA is often mistaken for AA but doesn't respond to steroids and may require hair transplantation.
research PMON325 Rare Presentation of Precocious Puberty Secondary to LH-Secreting Adenoma
An 8-year-old boy's early puberty was caused by a rare hormone-secreting brain tumor, which was successfully treated with surgery.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency
A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
research Cell Polarization Defects in Early Heart Development
Defects in certain proteins cause major heart abnormalities during early development.
research Effectiveness of Anastrozole and Cyproterone Acetate in Two Brothers with Familial Male Precocious Puberty
Anastrozole and cyproterone acetate treatment can help increase adult height in boys with testotoxicosis.
research An unusual case of quadruple polyorchidism in a human cadaver mimicking bilateral lipoma
A man had four testicles, two of which were outside the scrotum and looked like fatty lumps.
research Trichothiodystrophy and fragile hair: the distinction between diagnostic signs and diagnostic labels in childhood hair disease
research Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: A cross-sectional study
People with myotonic dystrophy type 1 have a higher chance of getting skin tumors, including melanoma.