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Quoted phrase not found in phrase index: "Microcephaly 13, 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 …
Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly.
Seeman P, Gebertová K, Paderová K, Sperling K, Seemanová E. Seeman P, et al. Pediatr Neurol. 2004 Mar;30(3):195-200. doi: 10.1016/j.pediatrneurol.2003.07.003. Pediatr Neurol. 2004. PMID: 15033202
The Nijmegen breakage syndrome is a rare autosomal recessive chromosomal instability disorder characterized by early growth retardation, congenital microcephaly, immunodeficiency, borderline mental development, and a high tendency to lymphoreticular malignanc …
The Nijmegen breakage syndrome is a rare autosomal recessive chromosomal instability disorder characterized by early growth re …
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. ...Only one family with Pashtoon origin from a remote region in Pakistan linked to …
Autosomal recessive primary microcephaly (MCPH) is a rare human genetic disorder in which the head circumference …