research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
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180-210 / 1000+ resultsresearch 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 Madarosis, milphosis, eyelash trichomegaly, and dermatochalasis
The document concludes that changes in eyelashes and eyelid skin can indicate various local and systemic diseases.
research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
research Versatility of the inferiorly based nasolabial flap for reconstruction in early oral cancer patients: Our experience in a tertiary cancer centre
The nasolabial flap is a reliable option for reconstructing oral defects in early cancer patients.
research DataSheet4_BBS7–SHH Signaling Activity Regulates Primary Cilia for Periodontal Homeostasis.csv
BBS7 is crucial for maintaining healthy periodontal ligaments by supporting Shh signaling.
research Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research Ulerythema ophryogenes with multiple congenital anomalies
The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
research Rapunzel Syndrome as a Rare Presentation of Trichobezoar
A 16-year-old girl with a hair-eating disorder needed surgery to remove a hairball from her stomach and small bowel.
research Risk of Periodontal Diseases in Women With Polycystic Ovary Syndrome: An Overview
Women with PCOS are at higher risk for gum disease, and managing shared risk factors can help both conditions.
research Abstracts of the 11th International Conference on Children's Bone Health
research An inductive signalling network regulates mammalian tooth morphogenesis with implications for tooth regeneration
Understanding tooth development pathways may help regenerate teeth and treat dental issues.
research Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding
Specific mutations in a receptor cause facial abnormalities and hair loss.
research Uncombable hair (pili trianguli et Canaliculi): Evidence for dominant inheritance with complete penetrance based on scanning electron microscopy
Uncombable hair is inherited dominantly with complete penetrance.
research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research Moniletrix. Observación de esta infrecuente displasia pilosa en dos hermanos. Reporte clínico y dermatoscópico
Monilethrix is a genetic hair disorder affecting hair shape, seen in two brothers.
research Ankyloblepharon-ectodermal dysplasia-clefting syndrome: Surgical and medical management in an infant with bilateral corneal perforations
Early and aggressive treatment is crucial for preserving vision in infants with AEC syndrome.
research Onychomadesis associated with childhood hand-foot-mouth disease
Hand-foot-mouth disease may cause nail loss in children.
research Oral and Systemic Manifestations of Systemic Lupus Erythematosus; Exploring the Association
Oral ulcers are common in SLE patients and often link to other symptoms.
research Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay
Certain genetic variants in keratins increase the risk of tooth decay.
research Keratoma Hereditaria Mutilans (Vohwinkel's Disease) with Congenital Alopecia Universalis (Atrichia Congenita)
Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
research Lip and Perioral Reconstruction
Reconstruct lips with proper planning, templates, and revisions for appearance and function.
research Cutaneous and Oral Mucosal Lesions in Cri-du-chat Syndrome
Cri-du-chat syndrome can cause skin and oral lesions affecting nutrition and quality of life.
research Frontal Cicatricial Alopecia: An Unusual Complication of Otoplasty
Otoplasty can cause permanent hair loss if bandages are too tight.
research A Congenital Hair Defect: Trichoschisis With Alternating Birefringence and Low Sulfur Content
research Monilethrix
A boy with monilethrix has brittle hair that breaks easily due to a genetic condition, which might improve by puberty.
research 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
research [An infant with short stature and red cheeks (Rothmund-Thomson syndrome)].
The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
research Open Discussion
Muscle-only free flaps for skull coverage have more long-term complications than composite flaps.