7 citations
,
May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
4 citations
,
October 2011 in “International Journal of Dermatology” Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
194 citations
,
May 2000 in “Journal of Investigative Dermatology” The hedgehog signaling pathway is crucial for hair growth but not for the initial creation of hair follicles.
356 citations
,
September 2014 in “Journal of Clinical Research in Pediatric Endocrinology” Childhood obesity is rising globally due to various factors, and early prevention and healthy lifestyle changes are crucial.
131 citations
,
March 2004 in “The American journal of pathology” Modulating BMP activity changes the number, size, shape, and type of ectodermal organs.
59 citations
,
June 2008 in “Journal of The American Academy of Dermatology” The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
4 citations
,
December 2020 in “Dermatologic Therapy” Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.
January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
60 citations
,
August 2008 in “Human molecular genetics online/Human molecular genetics” A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
15 citations
,
September 2018 in “Medicine” Childhood ptosis can vary from a minor cosmetic issue to a serious condition and may signal other health problems.
4 citations
,
October 2023 in “Children” Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
36 citations
,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
May 2023 in “Pharmaceuticals” Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
50 citations
,
September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
October 2025 in “JPRAS Open” Many are open to telemedicine for hair loss if combined with in-person visits and better technology.
July 2021 in “SBV Journal of Basic Clinical and Applied Health Science” Single-layer closure is as effective as multiple-layer closure, with shorter surgery time and lower cost.
20 citations
,
July 2013 in “European Journal of Oral Sciences” A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
4 citations
,
December 2013 in “The Journal of Dermatology” A new mutation in the K6b gene caused a girl's late-appearing nail condition.
February 2022 in “Authorea (Authorea)” PAON shows skin patterns due to genetic mosaicism.
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.
3 citations
,
June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
June 2025 in “British Journal of Dermatology” Nail abnormalities in children can indicate deeper health issues.
15 citations
,
May 2014 in “Journal of dermatology” Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
22 citations
,
September 2003 in “Journal of Investigative Dermatology” New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
2 citations
,
June 2013 in “Journal of Dermatological Case Reports” Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
5 citations
,
February 2003 in “American Journal of Medical Genetics Part A” A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
4 citations
,
June 2014 in “The Journal of Dermatology” Elkonyxis, a rare nail condition, improved when patients stopped their nail-picking habits.
13 citations
,
June 2012 in “European journal of medical genetics” Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.