Results 71 to 80 of about 317 (112)

Autosomal Recessive Infantile Hyaline Fibromatosis Identified Using Artificial Intelligence-Assisted Rapid Whole Genome Sequencing: A Rare, Multisystemic, Hereditary Disorder. [PDF]

Cureus
Ye GX, Ontiveros E, Ivander A, Velinov M, Simotas C.   +4 more
europepmc   +1 more source

Case Report: Newly discovered ELN gene mutation in congenital heart disease: case analysis and review. [PDF]

Front Pediatr
Cheng P, Wang G, Qiu J, Xie X, An Y.
europepmc   +1 more source

Decoding the Mystery of Multiple Swellings and Joint Contractures: Hyaline Fibromatosis Syndrome.

Indian J Dermatol
Varshini C, Chidambaram AC, Babu RMD, Vidhyasagar K, Sagayaraj B.   +4 more
europepmc   +1 more source

Williams-Beuren syndrome diagnosis in an infant with atypical chromosome 7 microdeletion. [PDF]

BMJ Case Rep
Olowu AA.
europepmc   +1 more source

Investigating the Influence of ANTXR2 Gene Mutations on Protective Antigen Binding for Heightened Anthrax Resistance. [PDF]

Genes (Basel)
Archana CA, Sekar YS, Suresh KP, Subramaniam S, Sagar N, Rani S, Anandakumar J, Pandey RK, Barman NN, Patil SS.   +9 more
europepmc   +1 more source

Renal tubular acidosis: Varied aetiologies and clinical presentations: Three case reports. [PDF]

World J Nephrol
Bhandarkar A, Varmudy A, Boro H, Bhat S.
europepmc   +1 more source

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Oral manifestations of infantile systemic hyalinosis

Journal of Oral Pathology and Medicine, 1995
Oral manifestations of infantile systemic hyalinosis in a child of Asian origin are presented. Infantile systemic hyalinosis is a rare fatal condition with probably an autosomal recessive mode of inheritance. The symptoms become apparent soon after birth and death usually occurs before the age of two years.
P Sloan
exaly   +4 more sources

Skeletal muscle involvement in infantile systemic hyalinosis

European Journal of Paediatric Neurology, 2003
Infantile Systemic Hyalinosis is a rare autosomal recessive entity, characterised by deposition of hyaline material in skin and bone, often complicated by visceral involvement. The characteristic features are marked delay in motor milestones attributed to severe progressive flexion contractures of proximal and distal joints, and skin and mucosal ...
Sue Brown, Francesco Muntoni, Nazneen Rahman   +2 more
exaly   +3 more sources

Ultrasound findings in infantile systemic hyalinosis

Rheumatology International, 2010
To describe clinical and ultrasound findings in a patient with infantile systemic hyalinosis (ISH). A 5-month-old boy was evaluated of joint contractures. In addition to clinical and laboratory investigations, an ultrasound of his joints was done and compared to a child with similar age.
Simone Appenzeller, José Alexandre Mendonça, Ieda Maria Magalhães Laurindo   +2 more
exaly   +3 more sources