Thyroid Hormone Receptor Interactor 11 - http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIP11&search=achondrogenesis

Thyroid Hormone Receptor Interactor 11; TRIP11 - http://omim.org/entry/604505

Q15643 (TRIPB_HUMAN) Reviewed, UniProtKB/Swiss-Prot - http://www.uniprot.org/uniprot/Q15643#ref10

ACHONDROGENESIS, TYPE IA; ACG1A - http://www.omim.org/entry/200600

Achondrogenesis - http://rarediseases.info.nih.gov/gard/2882/1/resources/1#

Achondrogenesis. Genetics Home Reference. February, 2008;http://ghr.nlm.nih.gov/condition/achondrogenesis. Accessed 10/25/2010.

Faivre L. and Cormier-Daire V.. Achondrogenesis. Orphanet. May, 2003;http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=932. Accessed 10/24/2010.

Bonafé L, Mittaz Crettol L, Ballhausen D, et al. Achondrogenesis Type 1B. 2002 Aug 30 [Updated 2013 Nov 14]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1516/

Solute Carrier Family 26 (Anion Exchanger), Member 2 - http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC26A2&search=achondrogenesis

P50443 (S26A2_HUMAN) Reviewed, UniProtKB/Swiss-Prot - http://www.uniprot.org/uniprot/P50443

Links para lo que falta: http://www.omim.org/entry/200610 http://www.genecards.org/cgi-bin/carddisp.pl?

gene=COL2A1&search=achondrogenesis#diseases http://ghr.nlm.nih.gov/condition/achondrogenesis#genes http://ghr.nlm.nih.gov/gene/COL2A1 http://www.ivami.com/noticia_indiv.php?id_noticia=2091&lang=es http://www.ivami.com/noticia_indiv.php?id_noticia=2090&lang=es http://www.genetaq.com/es/catalogo/prueba/acondrogenesis-tipo-2-

secuenciacion-gen-col2a1

Diferencias radiológicas e histológicas:

Within the achondrogenesis group, clinical and radiologic distinction between ACG1A, ACG1B, and ACG2 is not always possible. The presence of rib fractures and the absence of ossification of vertebral pedicles may suggest ACG1A. The hands and fingers are markedly shortened in ACG1B and less so in ACG1A; they can be almost normal in ACG2. ACG2 shows more severe underossification of the vertebral bodies compared to ACG1B, in addition to quite typical configuration of

the iliac bones with concave medial and inferior borders, and nonossification of the ischial and pubic bones.

Histology of the cartilage is very useful in distinguishing the three different forms of achondrogenesis:

ACG1A. The cartilage matrix is normal and inclusions are present in the chondrocytes.

ACG1B. The matrix is clearly abnormal (presence of "demasked," coarse collagen fibers, sometimes giving a wavy, sponge-like appearance) and has abnormal staining properties because of the reduced proteoglycans.

ACG2. The cartilage is hypervascular and hypercellular with reduced matrix and vacuoles ("Swiss cheese-like"), but has roughly normal staining properties.