Results 61 to 70 of about 256,394 (202)

Schimke Immuno-Osseous Dysplasia with Growth Retardation- A Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2018
Schimke-Immuno-Osseous Dysplasia (SIOD) is a rare multisystem progressive disorder which has an autosomal recessive inheritance pattern. This disorder can present with disproportionate short stature, spondyloepiphyseal dysplasia, progressive renal ...
Elham Hashemi Dehkordi, Payam Samei, Neda Mostofizadeh, Mahin Hashemipour, Mohammad Zolfaghari   +4 more
doaj   +1 more source

Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23

, 2008
Dyschromatosis universalis hereditaria (DUH) and dyschromatosis symmetrica hereditaria (DSH) are pigmentary dermatoses most commonly seen in Japan. Both disorders usually show autosomal dominant inheritance, although in some cases autosomal recessive ...
Nürnberg, G., Brakensiek, K., Stuhrmann, M., El-Harith, E.H., Becker, C., Miranda, M.C., Schmidtke, J., Hennies, Hans C., Frye-Boukhriss, H., Huebener, J., Knothe, S., Bukhari, I.A.   +11 more
core   +1 more source

Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi, Céline Louveau, Bertrand Diebold, Natacha Gaitch, Arnaud Hubas, Martine Gautier Vallee, Jérôme Champ, Anais L'Haridon, Sophie Georgin Lavialle, Boris Chaumette, Thierry Bienvenu   +10 more
wiley   +1 more source

Significance of connexion genes in non-syndromic deafness in Africans [PDF]

, 2013
Includes abstract.
Bosch, Jason
core   +1 more source

A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22. [PDF]

, 2001
Cataracts are the leading cause of blindness in most countries. Although most hereditary cases appear to follow an autosomal dominant pattern of inheritance, autosomal recessive inheritance has been clearly documented and is probably underrecognized.
Héon, E., Fraser, M., Hudson, T.J., Munier, F.L., Billingsley, G., Priston, M., Balmer, A., Verner, A., Paterson, A.D., Schorderet, D.F.   +9 more
core   +2 more sources

Possible Nagashima-Type Palmoplantar Keratosis in Two Siblings

Case Reports in Dermatology, 2013
Nagashima-type palmoplantar keratosis (PPK) is an autosomal recessive, transgressive and non-progressive form of PPK. It was once described as a mild form of mal de Meleda, but it is now proposed as a novel entity of PPK.
Kio Park, Kenji Kabashima, Yoshiki Miyachi   +2 more
doaj   +1 more source

Scalp-Ear-Nipple Syndrome: A Case Report

Case Reports in Medicine, 2014
The scalp-ear-nipple (SEN) syndrome is an infrequent congenital disease. Its main features are scalp defects, malformed ears, and absence of nipples. Most of the reported cases are autosomal dominant.
Estela Morales-Peralta, Vivian Andrés, Dainé Campillo Betancourt   +2 more
doaj   +1 more source

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source

Hyper-IgE syndrome. Lessons from function and defects of STAT-3 or DOCK-8

Revista Alergia México, 2016
In the classification of primary immunodeficiencies, hyper-IgE syndrome, identified with OMIM code # 147060 in the Online Mendelian Inheritance in Man catalog, belongs to the group of syndromes associated with combined immunodeficiencies.
Julio César Alcántara-Montiel, Brittany Itzel Vega-Torres   +1 more
doaj   +1 more source

ANK1 and EPB41 Variants and The Risk of Glucocorticoid‐Induced Osteonecrosis

Arthritis &Rheumatology, EarlyView.
Objective Steroid‐induced osteonecrosis of the femoral head (SONFH) is a refractory skeletal disorder influenced by genetic and environmental factors. However, conclusive pathogenic genetic evidence remains elusive due to the limited exploration of rare damaging variants. In this study, we aimed to identify rare variants associated with SONFH.
Shengbao Chen, Xianmin Zhu, Zhongzhong Chen, Wei Chen, Hussam Alkaissi, Zeng Zhang, Yun Gao, Junhui Yin, Xiangtian Yu, Qiong Fu, Youshui Gao, Zhenzhong Zhu, Qianying Cai, Pengwei Zhang, Weibin Chen, Xin Zhao, Xiaojin Wu, Karel Pacak, Dongxu Jin, Chunde Bao, Zhengping Zhuang, Changqing Zhang   +21 more
wiley   +1 more source