Results 231 to 240 of about 405,169 (366)

Hereditary Multiple Osteochondromas and Acute Lymphoblastic Leukemia: A Possible Role for EXT1 and EXT2 in Hematopoietic Malignancies

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hereditary multiple osteochondromas (HMO) is an autosomal dominant disorder caused by heterozygous deleterious variants in the EXT1 or EXT2 genes. While the clinical core phenotype is well established and mainly consists of bone deformities, limb length discrepancies, multiple benign bone neoplasms, and increased risk of chondrosarcoma, the ...
Francesco Comisi   +7 more
wiley   +1 more source

Mineral density of bone in the forearm in premenopausal women with fractured wrists. [PDF]

open access: bronze, 1988
Michael Horowitz   +5 more
openalex   +1 more source

Tall Stature and Scoliosis Associated With a Novel Homozygous Loss‐of‐Function Missense Variant in NPR3

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT NPR3‐related tall stature is characterized by tall stature, elongated big toes, and additional epiphyses in hand and foot bones. The condition is caused by biallelic loss‐of‐function variants affecting natriuretic peptide receptor 3 (NPR3). Five individuals from four different families have been reported.
Pierre Moffatt   +4 more
wiley   +1 more source

Wrist-Actigraphic Estimation of Sleep Time [PDF]

open access: bronze, 1980
Daniel J. Mullaney   +2 more
openalex   +1 more source

Case Report: Hypomyelinating Leukodystrophy Type 20 (HLD20) With Novel CNP Gene Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This case report describes a child with hypomyelinating leukodystrophy type 20 (HLD20), a rare neurodegenerative disorder characterized by impaired myelin formation. The patient presented with multiple neurodevelopmental abnormalities, including delayed motor milestones, seizures, and abnormal facial features.
Malak Alghamdi   +7 more
wiley   +1 more source

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