Results 71 to 80 of about 2,254,317 (172)

RNA Analysis Uncovers Pathogenic PARN Variant in Dyskeratosis Congenita

Clinical Genetics, Volume 109, Issue 2, Page 346-351, February 2026.
Using WGS and RNA analysis, we identified a branch point‐disrupting variant in the PARN gene and elucidated its pathogenic molecular mechanism in a child with atypical dyskeratosis congenita presentation. ABSTRACT Dyskeratosis congenita (DC) is a rare genetic disorder caused by impaired telomere maintenance, leading to diverse clinical manifestations ...
Daria Akimova, Natalia Semenova, Tatiana Cherevatova, Mikhail Skoblov   +3 more
wiley   +1 more source

Primary exocrine pancreatic insufficiency in children (a clinical case of Shwachman-Diamond syndrome)

Zdorovʹe Rebenka
The purpose of the article is to increase the vigilance of clinicians in various fields of medicine to Shwachman-Diamond syndrome in children and to raise awareness of its clinical manifestations, diagnosis and treatment using the example of the case ...
V.S. Berezenko, Yu.I. Proshchenko, Kh.Z. Mykhayluk, M.B. Dyba, O.M. Tkalik, Yu.O. Savenko   +5 more
doaj   +1 more source

The Difficult Differential Diagnosis for A Pediatric Patient with Shwachman-Diamond Syndrome; A Case Report and Literature Review

Trends in Pediatrics, 2022
Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disease characterized by bone marrow dysfunction, exocrine pancreatic insufficiency and skeletal abnormalities. Persistent or intermittent neutropenia caused by bone marrow hypoplasia is the
Dilvin Çelik Ateş, Arzu Akyay, Zehra Şule Haskoloğlu, Ünsal Özgen   +3 more
doaj   +1 more source

Strategies against nonsense: oxadiazoles as translational readthrough-inducing drugs (TRIDs) [PDF]

, 2019
This review focuses on the use of oxadiazoles as translational readthrough-inducing drugs (TRIDs) to rescue the functional full-length protein expression in mendelian genetic diseases caused by nonsense mutations.
Campofelice A., Di Leonardo A., Lentini L., Melfi R., Pace A., Pibiri I., Tutone M.   +6 more
core   +1 more source

Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene

Genes, 2022
Introduction. Shwachman-Diamond Syndrome (SDS) is an autosomal-recessive disorder characterized by neutropenia, pancreatic exocrine insufficiency, skeletal dysplasia, and an increased risk for leukemic transformation. Biallelic mutations in the SBDS gene
I. Taha, F. De Paoli, S. Foroni, S. Zucca, I. Limongelli, M. Cipolli, C. Danesino, U. Ramenghi, A. Minelli   +8 more
semanticscholar   +1 more source

A De Novo Splicing Mutation of SRP72 in Bone Marrow Failure Syndrome Type 1: Case Report and Review of the Literature

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
This study reports a rare case of bone marrow failure syndrome type 1 (BMFS1) caused by a novel de novo splicing mutation (c.1502+1G>A) in the SRP72 gene. The 6‐year‐old patient presented with aplastic anemia and pancytopenia. Genetic analysis identified the mutation, which was absent in both parents, confirming its de novo origin.
Wang Xiangwen, Zhang Duo, Hao Wenjing, Hou Hui   +3 more
wiley   +1 more source

A case of Shwachman-Diamond syndrome distinguished from celiac disease

Pediatric Reports, 2012
Shwachman-Diamond syndrome (SDS) is a rare, inherited, autosomal recessive disease characterized by exocrine pancreatic dysfunction, skeletal problems and varying degrees of cytopenias resulting in bone marrow dysfunction. We report the first case of SDS
Shin-ichiro Hagiwara, Arata Watanabe
doaj   +1 more source

A case report on an 8-month infant about zona infection in ocular members due to exposure to intrauterine varicella [PDF]

, 2013
Background and aims: Primary varicella infection which is rarely seen among infants appears as chicken pox in children and zona in adults due to its reactivation.
Khairi, M., Khoshdel, A., Nourbakhsh, M.K.   +2 more
core  

Abatacept Prevents Severe Acute Graft‐Versus‐Host Disease Without Increasing Graft Failure Risk in Pediatric Bone Marrow Failure Syndromes

Pediatric Blood &Cancer, Volume 72, Issue 12, December 2025.
ABSTRACT Background Pediatric patients with inherited or acquired bone marrow failure syndromes (BMFS) often require an allogeneic hematopoietic stem cell transplant (HSCT) to cure the hematological manifestations. Amongst these, those without a matched sibling donor (MSD), are at increased risk for graft failure and are known to tolerate graft‐versus ...
Zahra Hudda, Stella M. Davies, Adam Lane, Deborah E. Schiff, Eric J. Anderson, Parinda A. Mehta, Kasiani C. Myers, Nicholas J. Gloude   +7 more
wiley   +1 more source

Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry

Haematologica, 2010
Background Inherited bone marrow failure syndromes are rare genetic disorders characterized by bone marrow failure, congenital anomalies, and cancer predisposition.
Hannah Tamary, Daniella Nishri, Joanne Yacobovich, Rama Zilber, Orly Dgany, Tanya Krasnov, Shraga Aviner, Polina Stepensky, Shoshana Ravel-Vilk, Menachem Bitan, Chaim Kaplinsky, Ayelet Ben Barak, Ronit Elhasid, Joseph Kapelusnik, Ariel Koren, Carina Levin, Dina Attias, Ruth Laor, Isaac Yaniv, Philip S. Rosenberg, Blanche P. Alter   +20 more
doaj   +1 more source