research Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa
Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
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810-840 / 1000+ results research 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 [Striatal involvement on MRI in adrenomyeloneuropathy].
MRI can show unusual brain changes in adrenomyeloneuropathy.
research High‐dose mizoribine treatment for adolescents with systemic lupus erythematosus
High-dose mizoribine effectively controls symptoms in adolescents with lupus while reducing steroid use, with manageable side effects.
research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research Cirmcumscribed juvenile pityriasis rubra pilaris in a 5-year-old-girl treated with topical keratolytic and steroid
A 5-year-old girl with a rare skin disorder was effectively treated with skin creams instead of oral medication.
research An Unusual Cause of Primary Amenorrhea
The 18-year-old girl likely has a condition called müllerian agenesis, which caused her to not have a uterus and experience no menstrual periods.
research iRhom2 Mutation Leads to Aberrant Hair Follicle Differentiation in Mice
A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
research Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
Mutations in the HOXC13 gene cause hair and nail development issues.
research Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations
FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
research Transient bullous dermolysis of the newborn
The newborn's skin blisters healed without scarring, leaving some light spots, and stopped forming after four months.
research Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma
New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
research An Infant with Worsening Rash
The rash on the infant indicated a serious underlying condition.
research Skin manifestations of Bardet–Biedl syndrome
Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
research Early Onset Werner Syndrome
Consider Werner syndrome in young patients with early aging signs and metabolic issues.
research Woolly Hair in Two Siblings
Two siblings have a rare genetic condition causing curly, coarse hair.
research Untreated Congenital Adrenal Hyperplasia Presenting with Severe Androgenic Alopecia
Untreated Congenital Adrenal Hyperplasia can cause severe hair loss due to high androgen levels.
research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
research Diffuse congenital hypotrichosis simplex with associated hair shaft fragility
The document's conclusion cannot be provided because the document is not available or cannot be understood.
research The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat )
The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
research Growth hormone deficiency with late-onset hypothalamic hypoadrenocorticism associated with respiratory and renal dysfunction: a case report
A woman with childhood growth hormone deficiency had multiple hormone deficiencies and developed serious lung and kidney problems later in life.
research Index of Suspicion
A boy with long QT syndrome was treated successfully, highlighting the need for careful evaluation of chest pain in children for heart conditions like LQTS.
research Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.
research Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria
Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.
research Nevus psiloliparus: Newly described histopathological features from transverse sections
Nevus psiloliparus lacks mature hair follicles but keeps other skin structures intact.
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 BG01 Confirming small nuclear ribonucleoprotein polypeptide E as a cause of nonsyndromic hypotrichosis
The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.
research Epidermolysis bullosa in calves in the United Kingdom
Epidermolysis bullosa in UK calves is not caused by mutations in keratin genes.
research Transient Bullous Dermolysis of the Newborn
The newborn's skin condition improved over time, leaving only lighter skin patches.
research ROBERTSONIAN TRANSLOCATION PATIENT WITH RECURRENT MISCARRIAGE
Robertsonian translocation can cause recurrent miscarriages.