Dominantly inherited microcephaly, hypotelorism and normal intelligence
, 1991 A family with dominantly inherited microcephaly, hypotelorism and normal intelligence is described. Their facial appearance is very similar, with malar hypoplasia. Psychometric testing in two generations revealed normal intelligence.
Evans, D. G R; id_orcid
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Pediatric Dermatology, EarlyView.ABSTRACT Cutis tricolor (CT) is a rare pigmentary mosaicism characterized by the coexistence of hyperpigmented and hypopigmented areas on a background of normal skin; its syndromic form, Ruggieri–Happle syndrome (RHS), is associated with neurodevelopmental delay, facial dysmorphism, skeletal abnormalities, and other systemic defects.
Didier Bessis +2 more
wiley +1 more source
Rare genetic causes of primary microcephaly in two Saudi families identified via whole-exome sequencing: Genomic and phenotypic delineation of pathogenic <i>CDK5RAP2</i> and <i>CIT</i> variants. [PDF]
Mol Genet Metab RepAlbokhari D +6 more
europepmc +1 more source
Effect of blood meals and mating on biodemographic characteristics of Aedes albopictus
Physiological Entomology, EarlyView.Lifespan did not differ between virgin and mated males and females. The number of blood meals (one and two) significantly reduced adult lifespan compared with those with no blood meal. The effect of the second blood meal doubled females' egg production and their reproductive output.
Georgios D. Mastronikolos +1 more
wiley +1 more source
Goldberg-Shprintzen Megacolon Syndrome Diagnosed in the Neonatal Period: A Case Report With Molecular Confirmation. [PDF]
CureusPapaioannou E, Anastasiadou E.
europepmc +1 more source
Experimental Physiology, EarlyView.Abstract Sarcopenia and frailty are complex geriatric syndromes influenced by a combination of genetic and environmental factors. Recent studies suggest that specific genetic variants, DNA methylation patterns and shortened telomeres are associated with age‐related diseases and might contribute to the development of both sarcopenia and frailty. In this
Valentina Ginevičienė +10 more
wiley +1 more source
Ten Years of Congenital Zika Syndrome: From Outbreak to a Decade of Clinical, Therapeutic, and Preventive Advances in a Tropical Disease Context. [PDF]
Trop Med Infect DisPessoa FS.
europepmc +1 more source
The Journal of Physiology, EarlyView.Abstract figure legend Mitochondria are highly dynamic organelles that continuously remodel their architecture through coordinated cycles of fusion and fission. This review examines the four key GTPases that orchestrate mitochondrial dynamics in mammals: MFN1, MFN2, OPA1, and DRP1.
Rémi Chaney +4 more
wiley +1 more source
Renpenning syndrome caused by the c.459_462delAGAG mutation in PQBP1: a case report and literature review. [PDF]
Front GenetZhang M, Liu M, Wang R, Ma F, Mao G.
europepmc +1 more source
Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report
Pediatric Blood &Cancer, Volume 73, Issue 7, July 2026.ABSTRACT Diamond–Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain‐of‐function mutations in TP53 have been identified as a novel cause of Diamond–Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p ...
Rafael Moisan +6 more
wiley +1 more source