Presentation
Childhood presentation of COL4A1 mutations. Dev Med Child Neurol. 2012;54:569–74. [PubMed: 22574627] Shah S, Kumar Y, McLean B, Churchill A, Stoodley N, Rankin J, Rizzu P, van der Knaap M, Jardine P. [ncbi.nlm.nih.gov]
2018 PGAP3‐related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation JP5695719B2 (ja) 2015-04-08 ジュベール症候群に関連するcc2d2a遺伝子変異及びその同定診断法 Uwineza et al. 2014 Array-CGH analysis in Rwandan patients presenting [patents.google.com]
Gastrointestinal
- Nausea
0.000 description 1 206010027926 Monoplegia Diseases 0.000 description 1 210000002200 Mouth Mucosa Anatomy 0.000 description 1 241000699660 Mus musculus Species 0.000 description 1 208000008238 Muscle Spasticity Diseases 0.000 description 1 206010028813 Nausea [patents.google.com]
- Vomiting
0.000 description 1 210000003478 Temporal Lobe Anatomy 0.000 description 1 210000002435 Tendons Anatomy 0.000 description 1 108010000499 Thromboplastin Proteins 0.000 description 1 102000002262 Thromboplastin Human genes 0.000 description 1 206010047700 Vomiting [patents.google.com]
Musculoskeletal
- Muscle Spasticity
Proteins 0.000 description 1 241001465754 Metazoa Species 0.000 description 1 206010027926 Monoplegia Diseases 0.000 description 1 210000002200 Mouth Mucosa Anatomy 0.000 description 1 241000699660 Mus musculus Species 0.000 description 1 208000008238 Muscle [patents.google.com]
Neurologic
- Stroke
Stroke. 2007;38:1461–4. [PubMed: 17379824] van der Knaap MS, Smit LM, Barkhof F, Pijnenburg YA, Zweegman S, Niessen HW, Imhof S, Heutink P. Neonatal porencephaly and adult stroke related to mutations in collagen IV A1. Ann Neurol. 2006;59:504–11. [ncbi.nlm.nih.gov]
"COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke.", AM. J. HUM. [patents.google.com]
Prevention
0.000 description 3 230000002159 abnormal effect Effects 0.000 description 3 230000002490 cerebral Effects 0.000 description 3 238000011161 development Methods 0.000 description 3 239000011886 peripheral blood Substances 0.000 description 3 230000002265 prevention [patents.google.com]