Results 101 to 110 of about 625 (116)

Lumps and bumps in a young child: Hyaline fibromatosis syndrome

Karnataka Paediatric Journal
Hyaline fibromatosis syndrome (HFS) is a rare deposition disorder, wherein the skin and internal organs have unusual amounts of amorphous hyaline material. HFS can present as a milder form called Juvenile Hyaline Fibromatosis or severe Infantile Systemic Hyalinosis (ISH).
Mary Augustine, Sumedha Ballal, Rajalakshmi Tirumalae, Viola Elvia Sequeira   +3 more
openaire   +1 more source

[Analysis of pathogenic variants in a Chinese pedigree affected with hyaline fibromatosis syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2021
To explore the clinical characteristics and genetic basis for a pair of twins affected with hyaline fibromatosis syndrome (HFS).Clinical data of the twins were retrospectively analyzed. High-throughput sequencing was carried out to detect potential pathogenic variants.
Jianmei, Yang, Xiaohong, Shang, Fan, Liu, Qian, Wang, Caihong, Liu, Yan, Sun, Guimei, Li   +6 more
openaire   +1 more source

Hyaline Fibromatosis Syndrome

2023
SeyedAyin Hosseini, Nazila Heidari
openaire   +1 more source

In-Depth Analysis of Mutations in Hyaline Fibromatosis Syndrome (HFS)

2014
Keywords: Hyaline Fibromatosis Syndrome (HFS) ; Capillary Morphogenesis Gene 2 (CMG2) ; frameshift mutation ; outside-in signaling ; post-translational modification These Ecole polytechnique federale de Lausanne EPFL, n° 6287 (2014)Programme doctoral Approches moleculaires du vivantFaculte des sciences de la vieInstitut de recherche en ...
openaire   +1 more source

Hyaline Fibromatosis Syndrome: Early Outcomes Following Major Craniofacial Mass Excision

Journal of Craniofacial Surgery
Hyaline fibromatosis syndrome (HFS) is a rare congenital disorder characterized by abnormal hyaline deposition within soft tissues. Hyaline fibromatosis syndrome manifests in 2 distinct forms: (1) infantile systemic hyalinosis and (2) juvenile hyaline fibromatosis.
Sarut, Chaisrisawadisuk, Sirirat, Rattana-Arpa, Vannipa, Vathanophas, Achara, Sathienkijkanchai   +3 more
openaire   +2 more sources

HYALINE FIBROMATOSIS SYNDROME

Pediatria. Journal named after G.N. Speransky, 2018
S.I. Trofimova, O.E. Agranovich, V.M. Kenis, A.P. Nikitina   +3 more
openaire   +1 more source

A mild case of hyaline fibromatosis syndrome, presenting in an adult

Journal of the European Academy of Dermatology and Venereology, 2015
C. Bernárdez, E. Martinez Barba, H. Kutzner, L. Requena   +3 more
openaire   +1 more source

Hyaline Fibromatosis Syndrome

2016
openaire   +1 more source

In-Depth Analysis of Hyaline Fibromatosis Syndrome Frameshift Mutations at the Same Site Reveal the Necessity of Personalized Therapy

Human Mutation, 2013
Thomas Lemmin, Matteo Dal Peraro, Andrea Superti-Furga   +2 more
exaly  

Juvenile hyaline fibromatosis and infantile systemic hyalinosis: A unifying term and a proposed grading system

Journal of the American Academy of Dermatology, 2009
Eman Nofal, Ahmad Nofal, Enayat Mohamed Attwa   +2 more
exaly