| Title | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome. |
| Publication Type | Journal Article |
| Year of Publication | 2019 |
| Authors | Midro, AT, Tommerup, N, Borys, J, Panasiuk, B, Kosztyła-Hojna, B, Zalewska, R, Konstantynowicz, J, Łebkowska, U, Cooper, L, Scherer, SE, Mehrjouy, MM, Liu, Q, Skowroński, R, Stankiewicz, P |
| Journal | Clin Genet |
| Volume | 95 |
| Issue | 4 |
| Pagination | 534-536 |
| Date Published | 2019 Apr |
| ISSN | 1399-0004 |
| Keywords | Abnormalities, Multiple, Adult, Diagnosis, Differential, Facies, Humans, Male, Musculoskeletal Abnormalities, Neurodevelopmental Disorders, Phenotype, Radiography, Silver-Russell Syndrome, Syndrome |
| DOI | 10.1111/cge.13490 |
| Alternate Journal | Clin Genet |
| PubMed ID | 30633344 |