• A <em>KRT71</em> Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
• A homozygous mutation, c.736T&gt;A (p.C246S), in LIPH gene in a patient manifesting woolly hair, hypotrichosis, hearing difficulty, cleft palate and amblyopia
• A homozygous mutation, c.736T>A (p.C246S), in LIPH gene in a patient manifesting woolly hair, hypotrichosis, hearing difficulty, cleft palate and amblyopia
• A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
• A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis
• A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
• A mutation in NFkappaB interacting protein 1 causes cardiomyopathy and woolly haircoat syndrome of Poll Hereford cattle
• A new cardiac manifestation associated with woolly hair: report of two cases of woolly hair, palmoplantar keratoderma, and mitral valve regurgitation
• A new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility
• A novel deletion mutation in the DSG4 gene underlies autosomal recessive hypotrichosis with variable phenotype in two unrelated consanguineous families
• A novel mutation, c.699C&gt;G (p.C233W), in the LIPH gene leads to a loss of the hydrolytic activity and the LPA6 activation ability of PA-PLA1α in autosomal recessive wooly hair/hypotrichosis
• A novel mutation, c.699C>G (p.C233W), in the LIPH gene leads to a loss of the hydrolytic activity and the LPA6 activation ability of PA-PLA1alpha in autosomal recessive wooly hair/hypotrichosis
• A rare case of woolly hair with unusual associations
• A recessive mutation in the DSP gene linked to cardiomyopathy, skin fragility and hair defects impairs the binding of desmoplakin to epidermal keratins and the muscle-specific intermediate filament desmin
• Alopecia in genetic diseases
• Anaesthesia in Naxos disease: first case report
• Arrhythmogenic cardiomyopathy
• Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
• Botanical extract combined with minoxidil improve hidrotic ectodermal dysplasia caused by p.G11R mutations: a case report
• Clinical and genetic analysis of trichohepatoneurodevelopmental syndrome caused by a <em>CCDC47</em> variant
• Clinical spectrum of woolly hair: indications for cerebral involvement
• Co-Occurrence of Chronic Mucocutaneous Candidiasis with Woolly Hair
• Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome
• Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities
• Compound heterozygous mutations in desmoplakin cause skin fragility and woolly hair
• Congenital hair loss disorders: rare, but not too rare
• Congenital woolly hair without P2RY5 mutation
• Curly Hair Patches in a Toddler
• Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy
• Early-onset heart failure, alopecia, and cutaneous abnormalities associated with a novel compound heterozygous mutation in desmoplakin
• Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodontia
• Frizzy hair pathology
• Genetic syndrome with ichthyosis: congenital ichthyosis, follicular atrophoderma, hypotrichosis, and woolly hair; second report
• Giant congenital nevi: a 20-year experience and an algorithm for their management
• Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing
• Identification of 736T&gt;A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
• Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
• Identification of a novel mutation, c.686delAins18 (p.Asp229Glyfs*22), in the LIPH gene as a compound heterozygote with c.736T&gt;A (p.Cys246Ser) in autosomal recessive woolly hair/hypotrichosis
• Identification of a novel mutation, c.686delAins18 (p.Asp229Glyfs*22), in the LIPH gene as a compound heterozygote with c.736T>A (p.Cys246Ser) in autosomal recessive woolly hair/hypotrichosis
• Identification of an Alu-mediated 12.2-kb deletion of the complete LPAR6 (P2RY5) gene in a Turkish family with hypotrichosis and woolly hair
• Keratin 71 mutations: from water dogs to woolly hair
• Molecular genetics of alopecias
• Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair
• Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan
• Mutations in two genes on chromosome 13 resulting in a complex hair and skin phenotype due to two rare genodermatoses: KLICK and autosomal recessive woolly hair/hypotrichosis simplex
• Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy
• Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma
• Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes
• Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families
• Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families
• Novel small-insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis
• ON A FAMILY WITH THE RECESSIVE TRAIT OF WOOLLY HAIR, HYPOTRICHOSIS AND OTHER ANOMALIES
• Palmoplantar Keratoderma and Woolly Hair Revealing Asymptomatic Arrhythmogenic Cardiomyopathy
• Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia
• Prevalence of coat colour traits and congenital disorders of South American camelids in Austria, Germany and Switzerland
• Prognosis and Management of Congenital Hair Shaft Disorders with Fragility-Part I
• Prognosis and Management of Congenital Hair Shaft Disorders without Fragility-Part II
• Skin fragility, woolly hair syndrome with a desmoplakin mutation - a case from India
• SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome
• Syndromic (phenotypic) diarrhea in early infancy
• The association of keratosis pilaris atrophicans with hereditary woolly hair
• The twisting tale of woolly hair: a trait with many causes
• Topical minoxidil and tretinoin combined with an oral vitamin D analog as a treatment for woolly hair
• Tricho-hepato-enteric syndrome presenting with mild colitis
• Tricho-hepato-enteric syndrome: Retrospective multicenter experience in Saudi Arabia
• Trichohepatoenteric Syndrome
• Trichohepatoenteric syndrome type 1: expanding the clinical spectrum of THES type 1 due to a homozygous variant in the SKIC3 gene
• Two siblings with the skin fragility woolly hair syndrome
• Unruly hair
• Woolly hair nevus associated with digital abnormalities and auditory disturbance
• Woolly hair nevus: neonatal alopecia can be an initial manifestation
• Woolly Hair with Complete Atrioventricular Dissociation: A Rare Association
• Woolly hair--study of a family
• Woolly hair, palmoplantar keratoderma, and cardiac abnormalities: report of a family
• Woolly hair. Apropos of 5 cases
• Woolly-hair nevus: a case report and study by scanning electron microscopy
• Wooly hair nevus, Post's Type 2