research Ectodermal Dysplasia: Otolaryngologic Manifestations and Management
Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.
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research A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Neonatal allopregnanolone or finasteride administration modifies hippocampal K+ Cl− co-transporter expression during early development in male rats
Allopregnanolone increases KCC2 expression in baby male rats' brains, while finasteride doesn't affect it.
research Persistent Hypoglycemia and Macrosomia in a Newborn
A newborn with severe low blood sugar due to a genetic issue needed major surgery after standard treatments failed.
research 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly
New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
research Retardation of Preputial Wound Healing in Rats with Hypospadias Induced by Flutamide
Flutamide-induced hypospadias in rats slows down early wound healing.
research Maternal iron status in early pregnancy and DNA methylation in offspring: an epigenome-wide meta-analysis
A mother's iron levels early in pregnancy can influence the DNA makeup of her child, potentially affecting the child's health.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research Defects in Androgen Biosynthesis Causing 46,XY Disorders of Sexual Development
Genetic defects in androgen production are linked to male developmental disorders and are improving treatment understanding.
research Familial Frontal Fibrosing Alopecia Occurs Early in Daughters With Affected Mothers: A Case Report and a Review of the Literature
Daughters with affected mothers may develop frontal fibrosing alopecia early.