research Adams–Oliver syndrome: new evidence in variable expressivity?
The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
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research ĮGIMTA NERANDĖJANTI SKALPO ALOPECIJA: KLINIKINIS ATVEJIS IR DIFERENCINĖ DIAGNOSTIKA
A 7-year-old girl with non-scarring alopecia will have hair follicle transplantation to improve her quality of life.
research Hair Anomalies in a 6-Year-Old Girl
A 6-year-old girl was diagnosed with a rare hair disorder called monilethrix.
research Multiple congenital smooth muscle hamartoma: A case report
Early and accurate diagnosis of congenital smooth muscle hamartomas is crucial to distinguish them from other conditions.
research Clinical and molecular genetic studies in hereditary hair loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes
WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
research Structural abnormalities of the hair shaft
The document concludes that understanding hair structure is key to diagnosing hair abnormalities and recommends gentle hair care for management.
research Critical Developmental Periods for Effects on Male Rat Genitalia Induced by Finasteride, a 5α-Reductase Inhibitor
Finasteride affects male rat genitalia development, causing abnormalities during specific pregnancy days.
research Steroidogenesis of the testis – new genes and pathways
New genes and pathways are important for testosterone production and male sexual development.
research FOXN1: A Master Regulator Gene of Thymic Epithelial Development Program
The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
research Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis
FGF13 gene changes cause excessive hair growth in a rare condition.
research FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches
New treatments for immune disorders caused by FOXN1 deficiency are promising.
research Office Diagnosis of Hair Shaft Defects
The document explains how to identify different hair problems using a microscope.
research What does acne genetics teach us about disease pathogenesis?
Acne is significantly influenced by genetics, and understanding its genetic basis could lead to better, targeted treatments.
research Management of CAH during pregnancy
With careful management, people with congenital adrenal hyperplasia can have successful pregnancies and become parents.
research Hair Loss in Children
The document concludes that accurate diagnosis of hair loss in children is crucial due to limited treatment options and the condition's psychological impact.
research Secondary cicatricial and other permanent alopecias
The document says that treating the root cause of hair follicle damage is crucial to prevent permanent hair loss, and treatment options vary.
research FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis
A rare genetic mutation found in an Indian family can be detected through prenatal screening.
research Dermatologic manifestations of endocrine disorders
Skin problems can be signs of hormone-related disorders and recognizing them early is important for treatment.
research Alopecia in children
Most hair loss in children is caused by a few common conditions and is easy to diagnose, but rare types require careful evaluation.
research Testicular Steroidogenesis
Genetic defects in testosterone production can cause hormonal and developmental disorders, and more research is needed to understand androgen regulation and develop safer treatments.
research Le gènehairlessde la souris
The hairless gene is crucial for hair health, and its mutations cause hair loss.
research Developmental Toxicity of Levo-Alpha-Acetylmethadol (LAAM) in Tolerant Rats
LAAM caused developmental toxicity in tolerant rats without causing birth defects.
research An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review
An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
research NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
research Delleman syndrome or Haberland syndrome?
The symptoms described align more with Haberland syndrome, not Delleman-Oorthuys syndrome.
research Adrenal causes of endocrine hypertension in childhood or adolescence
Adrenal disorders often cause high blood pressure in young people.
research A case of temporal triangular alopecia
A 3-year-old boy was diagnosed with a rare, non-scarring hair loss condition called temporal triangular alopecia.
research Hair Loss in Children
The most common cause of hair loss in children is tinea capitis, followed by alopecia areata and telogen effluvium.
research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.