Results 31 to 40 of about 257,150 (173)

A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley–Kendall dysplasia are allelic disorders

Molecular Genetics & Genomic Medicine, 2020
Background Greenberg dysplasia is a rare, autosomal recessive, prenatal lethal bone dysplasia caused by biallelic pathogenic variants in the lamin B receptor (LBR) gene.
Pernille A. Gregersen, Victoria McKay, Maie Walsh, Erica Brown, George McGillivray, Ravi Savarirayan   +5 more
doaj   +1 more source

Prenatal diagnosis of recurrent moderate skeletal dysplasias in lamin B receptors

Frontiers in Genetics, 2023
The lamin B receptor (LBR) gene is located in chromosome 1q42.12 and encodes the lamin B receptor, an intracellular protein that binds to lamin B. LBR mutations are associated with a broad phenotypic spectrum ranging from non-lethal to lethal skeletal ...
Xueping Shen, Zhi Li, Xuekui Pan, Juan Yao, Guosong Shen, Su Zhang, Minyue Dong, Minyue Dong, Lihong Fan   +8 more
doaj   +1 more source

A novel compound heterozygous NBAS variant with HLH and multisystem involvement: expanding the clinical spectrum and literature review. [PDF]

Front Immunol
Biallelic variants in the neuroblastoma amplified sequence (NBAS) gene have been associated with short stature, optic atrophy, and Pelger-Huët anomaly (SOPH) syndrome, infantile liver failure syndrome type 2 (ILFS-2), and an increasingly broad spectrum ...
Gong X, Feng Y, Zhang Q, Tong L, Feng Z, Zhao X, Zhou L, Dou Y.   +7 more
europepmc   +2 more sources

Successful Treatment of Leukemic Synovitis Complicated With Chronic Myelomonocytic Leukemia. [PDF]

Case Rep Hematol
Chronic myelomonocytic leukemia (CMML) is a myeloproliferative disease characterized by monocyte‐predominant hematopoiesis. It is sometimes complicated with cutaneous involvement known as leukemic cutis, which is associated with a poor prognosis. We report a patient with CMML who developed fever with knee joint swelling and pain.
Tsutsumi H, Kudo M, Maseki N, Kawamura M, Kobayashi K, Sekiguchi Y, Harada Y, Sadato D, Kobayashi H.   +8 more
europepmc   +2 more sources

Airway Involvement in Conradi-Hünermann-Happle Syndrome: A Novel Clinical Manifestation. [PDF]

Laryngoscope
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Villarreal EG, Chiang J, Propst EJ, Wolter NE.   +3 more
europepmc   +2 more sources

Atypical “accelerated” chronic lymphocytic leukemia with abnormal lymphocyte chromatin clumping, bone involvement, and exceptional response to Imbruvica

Cancer Reports, 2022
Background The “accelerated” chronic lymphocytic leukemia (aCLL) is a relatively rare form of CLL progression. The expanded proliferation centers in aCLL have been associated with adverse prognostic features and propensity to more aggressive behavior ...
Leonid L. Yavorkovsky
doaj   +1 more source

Homozygous Pelger-Huet anomaly in three different crossbred rabbits: a case report

Veterinární Medicína, 2014
In this case report, three different crossbreedings of pet rabbits were performed producing affected as well as healthy bunnies. All affected rabbits were smaller and had local alopecia, exophthalmus, and limb deviations compared to their healthy ...
P. Supuka, D. Mazensky, A. Supukova, V. Parkanyi, L. Ondruska, S. Hornak, R. Hromada, V. Petrovic   +7 more
doaj   +1 more source

Leukocyte morphological changes in COVID-19, a peripheral smear study and analysis at a tertiary health care centre in India

Apollo Medicine, 2021
Context: Coronavirus disease 2019 (COVID-19) as the name depicts, a contagious disease caused by the coronavirus that emerged in the year 2019 December, at the Wuhan province in China.
Gokula Kannan, Mamta Soni
doaj   +1 more source

Transient neutrophil morphological abnormalities in a post-chemotherapy patient receiving G-CSF. [PDF]

Int J Lab Hematol
International Journal of Laboratory Hematology, Volume 47, Issue 1, Page 11-12, February 2025.
Tan Y, Cai X.
europepmc   +2 more sources

Autosomal recessive hyposegmentation of granulocytes in Australian Shepherd Dogs indicates a role for LMBR1L in myeloid leukocytes.

PLoS Genetics, 2023
Pelger-Huët anomaly (PHA) in humans is an autosomal dominant hematological phenotype without major clinical consequences. PHA involves a characteristic hyposegmentation of granulocytes (HG).
Bianca Lourdes Frehner, Matthias Christen, Iris M Reichler, Vidhya Jagannathan, Marilisa Novacco, Barbara Riond, Laureen M Peters, José Suárez Sánchez-Andrade, Aldona Pieńkowska-Schelling, Claude Schelling, Anja Kipar, Tosso Leeb, Orsolya Balogh   +12 more
doaj   +1 more source