| 1 | CHILD, NSDHL
|
| Left-sided CHILD syndrome caused by a nonsense mutation in exon 7 of the NSDHL gene.
|
| Danarti R, Grzeschik KH, Radiono S, König A, Happle R.
|
| Eur J Dermatol 20(5):634-5. Epub 2010 Jul 7. No abstract available. PMID: 20605772 2010
|
| 2 | AGPS, ARSE, CDPX1, CDPX2A, CHILD, DHAPAT, EBP, GGCX, HEMSK, KES, LBR, MGP, NSHDL, PEX7, RCDP1, RCDP2, RCDP3, VKCFD2, VKORC1
|
| Chondrodysplasia punctata: a clinical diagnostic and radiological review.
|
| Irving MD, Chitty LS, Mansour S, Hall CM.
|
| Clin Dysmorphol 17(4):229-41.
2008
|
| 3 | CHILD, NSDHL
|
| A novel silent mutation in the NSDHL gene causing CHILD syndrome as a result of aberrant splicing.
|
| Saito M, Ishiko A.
|
| Br J Dermatol 159(5):1204-6. Epub 2008 Sep 1. No abstract available.
2008
|
| 4 | SLOS, CDPX2A, CHILD, HEMSK, DSMS, LTSL
|
| Recent insights into the Smith-Lemli-Opitz syndrome.
|
| Yu H, Patel SB.
|
| Clin Genet 68(5):383-91. 2005
|
| 5 | CHILD, NSDHL
|
| Genetic disorders of cholesterol biosynthesis in mice and humans.
|
| Nwokoro NA, Wassif CA, Porter FD.
|
| Mol Genet Metab 74(1-2):105-19. 2001
|