research Semidominant Inheritance in Epidermolytic Ichthyosis
Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
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450-480 / 1000+ resultsresearch An Autosomal Recessive Woolly Hair/Hypotrichosis Case with LIPH Mutation in a Turkish Patient
A Turkish woman has a hair condition caused by a LIPH gene mutation.
research Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
Mutations in the LIPH gene cause woolly hair in a child.
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 Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
research Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
research Recent progress in the effect of ferroptosis of HSCs on the development of liver fibrosis
Inducing ferroptosis in hepatic stellate cells is crucial for treating liver fibrosis.
research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
research Familial congenital generalized hypertrichosis
A girl inherited excessive body hair from her mother and grandmother.
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 IRON DEFICIENCY: AN UNDER-RECOGNIZED PROBLEM IN KIDNEY TRANSPLANTATION. RISKS OF IRON TREATMENT.
Iron deficiency is common in kidney transplant patients, and while iron treatment helps, it can cause high red blood cell levels.
research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
Mutations in the KRT85 gene cause hair and nail problems.
research Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene
Researchers found a new mutation causing total hair loss from birth.
research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
research NON-ANEMIC IRON DEFICIENCY AS AN ETIOLOGIC FACTOR IN DIFFUSE LOSS OF HAIR OF THE SCALP IN WOMEN.
research Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China
A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
research Isolated patchy heterochromia with pili annulati features on light and electron microscopy
Isolated patchy heterochromia with pili annulati can occur without other health issues.
research The hairless (hr) gene is involved in the congential hypotrichosis of Valle del Belice sheep
The hr gene is linked to hair loss in Valle del Belice sheep.
research Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation
The condition is linked to chromosome 12, but no mutations were found in the known genes.
research Painful thickened skin on the soles of the feet
The man has a genetic skin condition called pachyonychia congenita.
research Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree
A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
research [P233] A case of acquired trichorrhexis nodosa with iron deficiency anemia
Iron deficiency anemia can cause hair breakage.
research Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
research Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review
New genetic mutations causing hair loss were found in a Chinese family.
research IRON DEFICIENCY ANEMIA: EPIDEMIOLOGY, PATHOGENESIS, CLINICAL MANIFESTATIONS, AND MODERN TREATMENT APPROACHES
Iron deficiency anemia is common and treated with iron supplements and diet changes.
research IRON DEFICIENCY ANEMIA: EPIDEMIOLOGY, PATHOGENESIS, CLINICAL MANIFESTATIONS, AND MODERN TREATMENT APPROACHES
Iron deficiency anemia is common and treated with iron supplements and diet changes.
research Homozygous missense mutation in theLIPHgene causing autosomal recessive hypotrichosis simplex in a Chinese patient
A specific gene mutation causes a rare hair loss condition in a Chinese patient.
research Familial Pure Hair–Nail Ectodermal Dysplasia in Yemen: A Father–Son Case Report with Clinical Correlation
A father and son in Yemen have a genetic condition causing hair loss and nail problems.