Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia

The development of hindlimbs in tetrapod species relies specifically on the transcription factor TBX4. In humans, heterozygous loss-of-function TBX4 mutations cause dominant small patella syndrome (SPS) due to haploinsufficiency. Here, we characterize a striking clinical entity in four fetuses with...

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Publicado no:Am J Hum Genet
Main Authors: Kariminejad, Ariana, Szenker-Ravi, Emmanuelle, Lekszas, Caroline, Tajsharghi, Homa, Moslemi, Ali-Reza, Naert, Thomas, Tran, Hong Thi, Ahangari, Fatemeh, Rajaei, Minoo, Nasseri, Mojila, Haaf, Thomas, Azad, Afrooz, Superti-Furga, Andrea, Maroofian, Reza, Ghaderi-Sohi, Siavash, Najmabadi, Hossein, Abbaszadegan, Mohammad Reza, Vleminckx, Kris, Nikuei, Pooneh, Reversade, Bruno
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2019
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6904794/
https://ncbi.nlm.nih.gov/pubmed/31761294
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.10.013
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