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Quoted phrase not found in phrase index: "Microcephaly 9, primary, autosomal recessive"
Page 1
Molybdenum cofactor deficiency: A natural history.
Spiegel R, Schwahn BC, Squires L, Confer N. Spiegel R, et al. J Inherit Metab Dis. 2022 May;45(3):456-469. doi: 10.1002/jimd.12488. Epub 2022 Mar 3. J Inherit Metab Dis. 2022. PMID: 35192225 Free PMC article.
Molybdenum cofactor deficiency (MoCD) includes three ultrarare autosomal recessive inborn errors of metabolism (MoCD type A [MoCD-A], MoCD-B, and MoCD-C) that cause sulfite intoxication disorders. ...Prospective biomarker data were collected for 21 living MoCD patie …
Molybdenum cofactor deficiency (MoCD) includes three ultrarare autosomal recessive inborn errors of metabolism (MoCD type A [M …
CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly.
Basit S, Al-Harbi KM, Alhijji SA, Albalawi AM, Alharby E, Eldardear A, Samman MI. Basit S, et al. Hum Genet. 2016 Oct;135(10):1199-207. doi: 10.1007/s00439-016-1724-0. Epub 2016 Aug 12. Hum Genet. 2016. PMID: 27519304
Autosomal recessive primary microcephaly (MCPH) is a static neurodevelopmental disorder characterized by congenital small head circumference and non-progressive intellectual disability without additional severe brain malformations. ...Sixteen genes (MC …
Autosomal recessive primary microcephaly (MCPH) is a static neurodevelopmental disorder characterized by congeni …
A novel ERCC6 splicing variant associated with a mild Cockayne syndrome phenotype.
Swartz JM, Akinci A, Andrew SF, Siğirci A, Hirschhorn JN, Rosenfeld RG, Dauber A, Hwa V. Swartz JM, et al. Horm Res Paediatr. 2014;82(5):344-52. doi: 10.1159/000368192. Epub 2014 Nov 1. Horm Res Paediatr. 2014. PMID: 25376329 Free PMC article.
BACKGROUND: Cockayne syndrome is an autosomal recessive, heterogeneous syndrome with classical features, including short stature, microcephaly, developmental delay, neuropathy, and photosensitivity. ...Assessment of primary fibroblast-derived mRNAs, ho …
BACKGROUND: Cockayne syndrome is an autosomal recessive, heterogeneous syndrome with classical features, including short statu …
A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly.
Gul A, Hassan MJ, Hussain S, Raza SI, Chishti MS, Ahmad W. Gul A, et al. J Hum Genet. 2006;51(9):760-764. doi: 10.1007/s10038-006-0017-1. Epub 2006 Aug 10. J Hum Genet. 2006. PMID: 16900296
Autosomal recessive primary microcephaly (MCPH) is a rare human genetic disorder in which the head circumference is reduced because of abnormality in fetal brain growth. ...Sequence analysis of exon 11 of CENPJ gene, located at MCPH6 locus, revealed a …
Autosomal recessive primary microcephaly (MCPH) is a rare human genetic disorder in which the head circumference …