Results 71 to 80 of about 401 (136)

Sporadic Dyschromatosis Universalis Hereditaria: A Second Case Report From Iran. [PDF]

Cureus, 2021
Dogohar S, Alirezaei P, Ghasemi Basir H, Jamshidi M, Etaee F.   +4 more
europepmc   +1 more source

Siblings with Dyschromatosis Universalis Hereditaria a Rare Case Report

, 2022
Pallavi Kumari, Sonia Jain, Pratiksha Moreshwar Sonkusale, Abhay Vilas Deshmukh   +3 more
openalex   +1 more source

Dyschromatosis Universalis Hereditaria: A Rare Case Report in Southern India

, 2023
Rishabh Sharma, Ritik Kashyap, L Devakar, Kumar Akash Saha, Amit Kumar   +4 more
openalex   +2 more sources

ABCB6 Resides in Melanosomes and Regulates Early Steps of Melanogenesis Required for PMEL Amyloid Matrix Formation [PDF]

, 2018
Genetically inheritable pigmentation defects provide a unique opportunity to reveal the function of proteins contributing to melanogenesis. Dyschromatosis universalis hereditaria (DUH) is a rare pigmentary genodermatosis associated with mutations in the ...
Bergam, Ptissam, Szakács, Gergely, Kucsma, Nóra, Raposo, Graça, Reisecker, Johannes M., van Niel, Guillaume, Rakvács, Zsófia   +6 more
core   +1 more source

ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis

, 2018
Cole disease is a genodermatosis of pigmentation following a strict dominant mode of inheritance. In this study, we investigated eight patients affected with an overlapping genodermatosis after recessive inheritance. The patients presented with hypo- and
Liu, Jianjun, Khalifa, Youcef Ben, Carine Bonnard, Saad, Ali, Simon Denil, Foo, Jia Nee, BoussofaraH'mida-Ben Brahim, Dorra, Boussofara, Lobna, Ons Mamaï, Reversade, Bruno, Chourabi, Marwa, Badreddine Sriha, Jianjun Liu, Dorra H’mida-Ben Brahim, Robinson, Kim Samirah, John EA Common, Lim, Shawn, Denguezli, Mohamed, Marwa Chourabi, Ali Saad, Bollen, Mathieu, Lobna Boussofara, Jia Nee Foo, Kim Samirah Robinson, Boussofra, Lobna, Wong, Pui Mun, H'mida-Ben Brahim, Dorra, Mohamed Denguezli, Mei Shan Liew, Mathieu Bollen, Dai, Liang, Shawn Lim, Mamaï, Ons, Denil, Simon, Pui Mun Wong, Common, John E. A., Liang Dai, Youcef Ben Khalifa, Bonnard, Carine, Common, John E.A., Sriha, Badreddine, Ben Khalifa, Youcef, Liew, Mei Shan, Bruno Reversade   +43 more
core   +1 more source

PER3 rs772027021 SNP  induce pigmentation phenotypes of dyschromatosis universalis hereditaria [PDF]

, 2022
Hongyu Chen, Pingping Yang, Dan Yang, Dongsheng Wang, Mao Lu, Yadong Li, Zhiqiang Zhong, Jing Zhang, Zhen Zeng, Zhi Liu, Xu Jia, Qinghe Xing, Ding’an Zhou   +12 more
openalex   +1 more source

Dyschromatosis universalis hereditaria: report of a case.

Journal of the Formosan Medical Association = Taiwan yi zhi, 1992
The case of a 43-old-year woman who had a generalized asymptomatic pigmentary disorder with onset at about age 20 is presented. Tracing back her family history, we found that her father and six of her siblings had also suffered a similar skin pigmentary defect with onset at the same approximate age.
C H, Kao, H S, Yu, S S, Ko
openaire   +1 more source

KITLG mutations cause familial progressive hyper- and hypopigmentation

, 2011
Familial progressive hyper- and hypopigmentation (FPHH) is thought to be an autosomal dominant disorder with reduced penetrance. Clinical signs consist of progressive diffuse, partly blotchy hyperpigmented lesions, multiple café-au-lait spots ...
Boon, Laurence M., Vikkula, Miikka, Brandrup, Flemming, Hoo, Joe, Miikka Vikkula, Amyere, Mustapha, Mustapha Amyere, Thomas Vogt, Bygum, Anette, Boon, Laurence, Flemming Brandrup, Anette Bygum, Laurence Boon, Vogt, Thomas, Joe Hoo, Bygum, Anette; id_orcid   +15 more
core   +1 more source

Gigantic Melanocytosis - The Dark Enigma. [PDF]

Indian Dermatol Online J, 2023
Murade K, Gujral HK, Dongre A, Nayak C.
europepmc   +1 more source

Dyschromatosis universalis hereditaria in clinical practice– A rare case report [PDF]

Ojasvi Virendra Saoji, Gopalakrishnan Kunjaram, Jayakar Thomas   +2 more
openalex   +1 more source