Short Rib–Polydactyly Syndrome
From Mdwiki | Short rib–polydactyly syndrome | |
|---|---|
 | |
| Short rib polydactyly syndrome - type 2-Indentation of upper lip, flattened nose, micrognathia, narrow thorax | |
 |
Short rib–polydactyly syndrome is a family of four closely related dysplasias:
- I – "Saldino-Noonan type"
- II – "Majewski type"
- III – "Verma-Naumoff type" (associated with DYNC2H1)[1]
- IV – "Beemer-Langer type"
References[edit | edit source]
- ↑ Merrill AE, Merriman B, Farrington-Rock C, et al. (April 2009). "Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome". Am. J. Hum. Genet. 84 (4): 542–9. doi:10.1016/j.ajhg.2009.03.015. PMC 2667993. PMID 19361615.
External links[edit | edit source]
| Classification |
|---|
Categories: [Growth disorders] [Syndromes]
↧ Download as ZWI file | Last modified: 01/12/2024 20:27:09 | 2 views
☰ Source: https://mdwiki.org/wiki/Short_rib–polydactyly_syndrome | License: CC BY-SA 3.0
ZWI signed:
ZWI viewer
by the 
KSF
KSF