research New familial association between ocular coloboma and loose anagen syndrome
Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
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540-570 / 1000+ results research Gonadal Function Abnormalities in Sickle Cell Anemia
Sickle cell anemia causes hormone issues and delayed puberty due to testicular failure.
research Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome?
A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
research The Sex-Linked Histocompatibility Antigens
Male-to-female skin grafts in mice are rejected due to sex-linked antigens.
research (26) Acne due to congenital adrenal hyperplasia
Hormonal imbalances in congenital adrenal hyperplasia cause acne.
research 5alpha-reductase 2 inhibition impairs brain defeminization of male rats: Reproductive aspects
5alpha-reductase 2 is crucial for proper male brain development and sexual differentiation.
research Novel Missense Mutation in the P-Box of Androgen Receptor in a Patient with Androgen Insensitivity Syndrome
A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
research Clinical Case Notes. Intraorbital ophthalmic artery aneurysms
Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
research NovelPAX9mutation associated with syndromic tooth agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
research Association between lower hair zinc levels and Neural Tube Defects
Lower hair zinc levels may be linked to Neural Tube Defects.
research A unique presentation of trichofolliculoma in amniotic band syndrome
Trichofolliculoma was found in a person with amniotic band syndrome for the first time.
research Maternal androgen excess significantly impairs sexual behavior in male and female mouse offspring: Perspective for a biological origin of sexual dysfunction in PCOS
Too much male hormone in mothers can negatively affect the sexual behavior of both male and female baby mice.
research Metformin influence on hormone levels at birth, in PCOS mothers and their newborns
Metformin taken during pregnancy increases SHBG in newborns but doesn't change other hormone levels in mothers or babies.
research Ectopic hair on the glans penis
A man grew hair on his penis, which is not common, and needed surgery to remove 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 CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
research Penopubic Junction Reconstruction Using a Pedicled Superficial Circumflex Iliac Artery Perforator Flap
This method effectively reconstructs scarred penopubic junctions after surgery.
research Physiology of Male Gonadotropic Axis and Disorders of Sex Development
Understanding genes and hormones is crucial for managing male puberty and sex development disorders.
research 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research Loss of Msx2 Function Down-Regulates the FoxE3 Expression and Results in Anterior Segment Dysgenesis Resembling Peters Anomaly
Loss of Msx2 function causes eye development issues similar to Peters anomaly.
research Inflammatory Vegetative Lesions of the Perineum: A Rare and Severe Clinical Presentation of Netherton Syndrome
Netherton Syndrome can cause severe skin lesions in rare cases.
research 875 Clinical, Histologic and Immunohistochemical Characterization of Mixed Epithelial and Stromal Tumor of the Seminal Vesicle: A Systematic Review and a Novel Case Report
MESTSV is a rare tumor that is mostly benign but needs long-term monitoring due to potential recurrence.
research FOXN1 deficient nude severe combined immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
research A clinical case of CNOT3 syndrome in a 10-year-old girl
Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
research Precocious Puberty
Early sexual development in children, especially girls, can be treated with hormone therapy to improve adult height and requires support for the child and family.
research Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
research A 5α-reductase inhibitor, finasteride, increases differentiation and proliferation of embryonal carcinoma cell-derived-neural cells
research Role of EZH2 in Uterine Gland Development
EZH2 is crucial for uterine gland development and female fertility.
research Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center within the Middle East and North Africa (MENA) Region
A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.