Results 181 to 190 of about 1,130,741 (368)

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo   +4 more
wiley   +1 more source

Long‐Read Whole‐Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing Synpolydactyly

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Synpolydactyly (SPD) is a heterogeneous distal‐limb malformation syndrome, characterized by webbing and duplication of adjacent digits. SPD1, the most common type, is attributed to disease‐causing variants in HOXD13, a transcription factor in the HOXD cluster that is essential for limb development. Here, we present a challenging exome‐negative
Jonathan Rips   +9 more
wiley   +1 more source

Shennong 1 Chicken 40K Liquid Chip: Advancing Genetic Research in Chinese Indigenous Chickens

open access: yesAnimal Research and One Health, EarlyView.
Based on comprehensive genomic data of Chinese indigenous chickens, we developed a specialized genotyping array for this population. Comparative analyses with published mainstream arrays and evaluations, including genetic assessment of diverse chicken types and gene mining analyses, demonstrated its superior applicability to Chinese indigenous chickens.
Chaoqun Gao   +14 more
wiley   +1 more source

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