December 2025 in “Open Repository of the University of Porto (University of Porto)” Pharmacists play a crucial role in improving patient outcomes through personalized care and staying updated with scientific advancements.
January 2024 in “Surgical & Cosmetic Dermatology” Exosomes may help treat skin diseases and improve skin rejuvenation.
Early NAS level changes affect alcohol consumption vulnerability.
July 2019 in “Dermatologic Surgery”
11 citations
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December 2014 in “The American journal of pathology” A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
17 citations
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June 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” The G60S Connexin43 mutation causes hair growth issues and poor hair quality in mice, similar to human ODDD patients.
20 citations
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August 1979 in “PubMed” Adding zinc to marmosets' water improved their health, indicating their diet lacked enough zinc.
14 citations
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June 1989 in “Journal of dermatology” Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
July 2017 in “ORTHOPAEDICS TRAUMATOLOGY and PROSTHETICS” Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.
51 citations
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January 1997 in “PubMed” GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
13 citations
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July 2004 in “Pediatric dermatology” A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
May 2004 in “Annals of Plastic Surgery” Muscle-only free flaps for skull coverage have more long-term complications than composite flaps.
1 citations
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January 2013 in “Journal of the Scientific Society” A painless cheek lump was misdiagnosed but later identified as a rare benign skin lesion called pilomatrixoma.
A new genetic mutation was found causing hair and eye issues in a boy.
December 2025 in “Anatomy (International Journal of Experimental and Clinical Anatomy)” Palmaris longus muscle absence is uncommon and not linked to gender, hand side, or finger ratio.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
5 citations
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March 2009 in “Pediatric Dermatology” The study found that pili bifurcati causes hair to intermittently split into two branches, each with its own outer layer.
31 citations
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June 2017 in “Regeneration” BMP2 needs periosteal tissue to help regenerate mouse middle finger bones within a specific time.
20 citations
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May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
May 2024 in “Indian Journal of Dermatology” The woman has a rare skin condition called follicular Dowling-Degos disease, which has limited treatment options.
12 citations
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September 2017 in “JDR Clinical & Translational Research” Early detection of specific VDR mutations is crucial for effective treatment and better dental outcomes in children with hereditary vitamin D–resistant rickets.
23 citations
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December 2008 in “Pediatric neurology” The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.
5 citations
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January 2011 in “Journal of the Korean Association of Oral and Maxillofacial Surgeons” A woman developed a cyst in her parotid gland after a botox injection, which was successfully removed with surgery.
264 citations
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October 1958 in “Archives of Dermatology” A 4-year-old girl has a rare hair condition causing fragile, short hair.
10 citations
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December 1999 in “Journal of The American Academy of Dermatology” The technique of using a skin and hair graft from behind the ear successfully reconstructed a large eyebrow defect with good cosmetic results.
1 citations
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June 2019 in “Oral diseases” January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
5 citations
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October 2018 in “Dermatologic therapy” Recognizing congenital triangular alopecia is crucial to avoid unnecessary treatments.
13 citations
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September 2011 in “Archives of dermatology” A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.