PMC Links for OMIM (Select 147891) - PMC

Select item 71708851.

A newly recognized multiple malformation syndrome with caudal regression associated with a biallelic c.402G>A variant in TBX4

Prajnya Ranganath, Sreeja Perala, Lekshmi Nair, Pramod Kumar Pamu, Aparna Shankar, Sakthivel Murugan, Ashwin Dalal

Eur J Hum Genet. 2020 May; 28(5): 669–673. Published online 2020 Jan 21. doi: 10.1038/s41431-020-0572-5

PMCID:: PMC7170885

Abstract Article PDF–782K

Select item 69047942.

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

Ariana Kariminejad, Emmanuelle Szenker-Ravi, Caroline Lekszas, Homa Tajsharghi, Ali-Reza Moslemi, Thomas Naert, Hong Thi Tran, Fatemeh Ahangari, Minoo Rajaei, Mojila Nasseri, Thomas Haaf, Afrooz Azad, Andrea Superti-Furga, Reza Maroofian, Siavash Ghaderi-Sohi, Hossein Najmabadi, Mohammad Reza Abbaszadegan, Kris Vleminckx, Pooneh Nikuei, Bruno Reversade

Am J Hum Genet. 2019 Dec 5; 105(6): 1294–1301. Published online 2019 Nov 21. doi: 10.1016/j.ajhg.2019.10.013

PMCID:: PMC6904794

Abstract Article PDF–1.4M

Select item 37175873.

TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension

Wilhelmina S Kerstjens-Frederikse, Ernie M H F Bongers, Marcus T R Roofthooft, Edward M Leter, J Menno Douwes, Arie Van Dijk, Anton Vonk-Noordegraaf, Krista K Dijk-Bos, Lies H Hoefsloot, Elke S Hoendermis, Johan J P Gille, Birgit Sikkema-Raddatz, Robert M W Hofstra, Rolf M F Berger

J Med Genet. 2013 Aug; 50(8): 500–506. Published online 2013 Apr 16. doi: 10.1136/jmedgenet-2012-101152

PMCID:: PMC3717587

Abstract Article PDF–783K

Select item 17348194.

The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome

E. BONGERS, H. VAN BOKHOVEN, M.-N. VAN THIENEN, M. KOOYMAN, S. E C VAN BEERSUM, C. BOETES, N. KNOERS, B. HAMEL

J Med Genet. 2001 Mar; 38(3): 209–214. doi: 10.1136/jmg.38.3.209

PMCID:: PMC1734819

Summary PDF–176K

Select item 11820875.

Mutations in the Human TBX4 Gene Cause Small Patella Syndrome

Ernie M. H. F. Bongers, Pascal H. G. Duijf, Sylvia E. M. van Beersum, Jeroen Schoots, Albert van Kampen, Andreas Burckhardt, Ben C. J. Hamel, František Lošan, Lies H. Hoefsloot, Helger G. Yntema, Nine V. A. M. Knoers, Hans van Bokhoven

Am J Hum Genet. 2004 Jun; 74(6): 1239–1248. Published online 2004 Apr 21. doi: 10.1086/421331

PMCID:: PMC1182087

Abstract Article PDF–714K

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