Autosomal recessive inheritance - Open Access .click

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Oligogenic inheritance in epilepsy: A systematic exome‐wide analysis

Epilepsia, EarlyView.
Abstract Objective Genetic factors contribute to the majority of epilepsies, but the exact genetic cause remains unknown in most patients. Incomplete penetrance and variable expressivity are frequent, and recent studies showed a burden of deleterious variants in epilepsy genes, suggesting a role for oligogenic inheritance.
Sarah Duerinckx +192 more
wiley +1 more source

Autosomal recessive inheritance of goiter in Dutch goats

, 1987
The inheritance of congenital goiter due to a thyroglobulin synthesis defect in a strain of Dutch goats has been studied by Mendelian and biochemical methods. Mendelian analysis of 301 matings, resulting in 591 kids, showed an autosomal recessive mode of
Sterk, A. +5 more
core

Oculo-palato-cerebral syndrome: A third case supporting autosomal recessive inheritance

, 2004
In 1985, Frydman et al. [1985: Clin Genet 27: 414-419] described a syndrome characterized by growth failure, microcephaly, persistent hyperplastic primary vitreous (PHPV) with microphthalmia, cleft palate, connective tissue abnormality, mental ...
Orhan, M +3 more
core +1 more source

Phenotypic and transcriptomic characterization of biallelic RNU2‐2 developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective A significant proportion of individuals with suspected genetic developmental and epileptic encephalopathies (DEEs) remain unsolved following whole genome sequencing (WGS). Here we describe biallelic RNU2‐2 variants causing a recently reported, severe, recessive DEE.
Olivia J. Henry +23 more
wiley +1 more source

Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance

, 1991
Two sibs with a phenotype characterised by short stature, brachydactyly, and ocular anomalies (Peters' anomaly) are reported (Peters'-plus syndrome).
Telles, Luis Fernando +7 more
core

Evidence for autosomal recessive inheritance of split hand/split foot malformation: a report of nine cases

, 2002
Split hand and foot malformation syndrome (SHFM) is characterized by the absence of the central digital rays, deep median cleft, and syndactyly of the remaining digits.
Oktenli, C, Gul, D
core +1 more source

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. [PDF]

, 2013
Childhood onset motor neuron diseases or neuronopathies are a clinically heterogeneous group of disorders. A particularly severe subgroup first described in 1894, and subsequently called Brown-Vialetto-Van Laere syndrome, is characterized by progressive ...
Land, John M. +134 more
core +2 more sources

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola +3 more
wiley +1 more source

Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease

, 2013
BACKGROUND: Dominant polycystic kidney disease is common and usually presents clinically in adulthood. Recessive polycystic kidney disease is much less common and frequently presents antenatally or in the neonatal period with severe renal involvement ...
Sukhtankar, Priya +3 more
core +1 more source

Clinical and genetic features in autosomal recessive and X-linked Alport syndrome [PDF]

, 2014
BACKGROUND: This study determined the family history and clinical features that suggested autosomal recessive rather than X-linked Alport syndrome.
Wang, Y +15 more
core +1 more source

medicine
genetics
autosomal recessive