1 citations
,
October 2023 in “Heliyon” An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
11 citations
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May 2011 in “World Journal of Pediatrics” The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
11 citations
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March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
51 citations
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January 2003 in “Hormone Research in Paediatrics” Hormones and their receptors, especially androgens, play a key role in hair growth and disorders like baldness.
3 citations
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January 2018 in “BioMed Research International” Achieving perfect facial plastic surgery requires personalized plans, proper patient selection, advanced techniques, and ongoing surgeon education.
2 citations
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January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
9 citations
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May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
1 citations
,
January 2023 in “Indian Journal of Dermatology/Indian journal of dermatology” 5% minoxidil can significantly increase hair growth in TRPS patients.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
4 citations
,
January 2023 in “Journal of Clinical Investigation” Specific mutations in a receptor cause facial abnormalities and hair loss.
April 2026 in “Diagnostics” Parry–Romberg Syndrome can involve the brain even without obvious symptoms, and a new diagnostic framework is suggested for early detection.
7 citations
,
January 2016 in “Case reports in pediatrics” A girl with Becker's nevus syndrome showed good improvement in breast development using spironolactone.
4 citations
,
October 2023 in “Children” Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
22 citations
,
June 2020 in “iScience” Sox21 is crucial for tooth development and enamel formation by preventing cells from changing into a different type.
January 2026 in “Contemporary Clinical Dentistry” VKHD can include rare oral symptoms like discolored teeth.
5 citations
,
January 2024 in “Aesthetic Surgery Journal Open Forum” Proper management and preventative measures can reduce serious adverse events from deoxycholic acid injections for fat reduction.
115 citations
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October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
1 citations
,
January 2020 in “Skin appendage disorders” A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
June 2002 in “Surgery (oxford)” The document says that treating burns late focuses on improving function, appearance, and helping patients return to normal life, using both non-surgical and surgical methods.
109 citations
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October 2007 in “American Journal of Human Genetics” Giving a special protein to dogs with a certain genetic disease improved their symptoms but didn't help with hair growth.
7 citations
,
April 2013 in “Journal of Cellular Biochemistry” CD61 is important for mouse tooth cell growth and works through Lgr5.
January 2023 in “Book of Abstracts” COVID-19 can cause different types of hair loss, with telogen effluvium being the most common.
184 citations
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September 2006 in “PLoS Genetics” The Apc gene is crucial for normal skin and thymus development.
160 citations
,
January 2014 in “Seminars in cell & developmental biology” Early development of hair, teeth, and glands involves specific signaling pathways and cellular interactions.
146 citations
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May 2002 in “The American journal of pathology” Cathepsin L is essential for normal hair growth and development.
111 citations
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January 2007 in “Seminars in cell & developmental biology” Hair, teeth, and mammary glands develop similarly at first but use different genes later.
50 citations
,
November 2010 in “Otolaryngologic Clinics of North America” Recognizing oral symptoms can help diagnose and treat blood and nutritional diseases early.
4 citations
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September 2024 in “BMC Oral Health” Children with Epidermolysis Bullosa need better access to specialized dental care.
1 citations
,
July 2024 in “Indian Journal of Case Reports” GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.