research Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.
A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
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research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies
A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
research Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.
A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
research Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>ALIPH mutation
Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.
research Novel small‐insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis
Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
research Light Microscopic Hair Abnormalities in Children: Retrospective Review of 119 Cases in a 10-Year Period
Over half of the children had abnormal hair under a microscope, with many having genetic hair conditions.
research The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
A specific mutation in PA-PLA1α causes abnormal hair growth.
research Ugreelig hår
A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
research Diffuse partial woolly hair in a patient with epidermolysis bullosa simplex with mottled pigmentation
A patient with a rare hair condition and skin disorder showed hair improvement after treatment.
research Hair dysplasias
Hair dysplasias involve various hair disorders causing fragility, breakage, and poor hair adhesion.
research Alopecia totalis in an infant
An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
research Uncombable hair syndrome: A case presentation
Uncombable hair syndrome causes dry, frizzy hair that can't be combed flat, seen in a young child.
research A girl with loose anagen hair syndrome and concurrent uncombable hair syndrome
A girl had two rare hair conditions that helped understand their overlap.
research Botanical extracts in combination improve autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations
Botanical extracts can help treat hair loss in people with certain genetic conditions.
research Diagnostic challenge: Loose anagen hair syndrome
The study concludes that Loose Anagen Hair Syndrome is a benign condition that usually improves with age but can be hard to diagnose and stressful for the family.
research Monilethrix: Beaded hair and hypotrichosis in a child
A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
research Unruly hair
The document concludes that unruly hair can be congenital or acquired, often lacks specific treatments, and can be managed with oils and short hairstyles.
research Do you know this syndrome? * Você conhece esta síndrome? *
The document concludes that Loose Anagen Hair Syndrome is a benign condition where hair is thin and easily pulled out, often improving with age.
research Two siblings with uncombable hair syndrome: A new pathogenic variant
Two siblings have a rare hair condition caused by a new genetic variant.
research A case of localized uncombable hair syndrome
A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
research Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis
Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
research A girl struggling with extremely unruly hair
The girl likely has Loose anagen hair syndrome, which may improve on its own or with minoxidil.
research Uncombable hair (pili trianguli et Canaliculi): Evidence for dominant inheritance with complete penetrance based on scanning electron microscopy
Uncombable hair is inherited dominantly with complete penetrance.
research A rare hair loss in children: Monilethrix
Monilethrix is a rare, inherited condition causing fragile hair and hair loss, with no cure but some treatments may help.
research Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Mutations in the LSS gene cause a rare type of hereditary hair loss.
research The genetics of hair shaft disorders
The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
research Uncombable hair in a case of Zellweger syndrome – A new association
Uncombable hair syndrome is linked to Zellweger syndrome.
research Loose anagen hair syndrome
Loose anagen hair syndrome causes easily shed hair but usually improves with time.
research A rare cause of irrevocable childhood alopecia feigning alopecia universalis: Atrichia congenita with papular lesions
An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
A rare gene variant causes hair and nail issues in a family.