| Entry |
|
|---|
| Name |
|
|---|
| Gene |
SMC1A structural maintenance of chromosomes 1A [KO: K06636]
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
|
|---|
| Network |
nt06512 Chromosome cohesion and segregation |
|---|
| Disease |
| H00606 | Early infantile epileptic encephalopathy |
| H00631 | Cornelia de Lange syndrome |
|
|---|
| Reference |
|
|---|
| Authors |
Musio A, Selicorni A, Focarelli ML, Gervasini C, Milani D, Russo S, Vezzoni P, Larizza L |
|---|
| Title |
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Jansen S, Kleefstra T, Willemsen MH, de Vries P, Pfundt R, Hehir-Kwa JY, Gilissen C, Veltman JA, de Vries BB, Vissers LE |
|---|
| Title |
De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum. |
|---|
| Journal |
|
|---|
| LinkDB |
|
|---|
