| 1 | HAAD, ISLR2 |
| A novel ISLR2-linked autosomal recessive syndrome of congenital hydrocephalus, arthrogryposis and abdominal distension | |
| Alazami AM, Maddirevula S, Seidahmed MZ, Albhlal LA, Alkuraya FS. | |
| Hum Genet. Jan;138(1):105-107. doi: 10.1007/s00439-018-1963-3. Epub 2018 Nov 27. 2019 | |