A mitochondrial neurogastrointestinal encephalomyopathy with intestinal pseudo-obstruction resulted from a novel splice site mutation Erdogan, Mehmet A.; Seckin, Yuksel; Harputluoglu, Muhsin M.; More Erdogan, Mehmet A.; Seckin, Yuksel; Harputluoglu, Muhsin M.; Karincaoglu, Melih; Aladag, Murat; Caliskan, Ali R.; Bilgic, Yilmaz; Yildirim, Oguzhan; Cagin, Yasir F.; Atayan, Yahya; Cengiz, Ayse N.; Emul, Cihat; Esener, Zeynep; Erbay, Mehmet F.; Tekedereli, Ibrahim Less Clinical Dysmorphology. ., Post Author Corrections: November 06, 2018 Abstract Abstract Favorites PDF Get Content & Permissions Abstract:
Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV Radhakrishnan, Periyasamy; Moirangthem, Amita; Nayak, Shalini S.; More Radhakrishnan, Periyasamy; Moirangthem, Amita; Nayak, Shalini S.; Shukla, Anju; Mathew, Mary; Girisha, Katta M. Less Clinical Dysmorphology. ., Post Author Corrections: October 09, 2018 Abstract Abstract Favorites PDF Get Content & Permissions Abstract:
UBE2A-related X-linked intellectual disability Stevenson, Roger E.; Chudley, Albert E.; Srivastava, Anand K.; More Stevenson, Roger E.; Chudley, Albert E.; Srivastava, Anand K.; Rodriguez, Jayson; Friez, Michael J.; Schwartz, Charles E. Less Clinical Dysmorphology. ., Post Author Corrections: September 01, 2018 Abstract Abstract Favorites PDF Get Content & Permissions Abstract:
Ophthalmic manifestations associated with RARB mutations Wangtiraumnuay, Nutsuchar; Kopinsky, Sarina; Iyer, Prashanth; More Wangtiraumnuay, Nutsuchar; Kopinsky, Sarina; Iyer, Prashanth; Capasso, Jenina; Whitehead, Rick; Schneider, Adele; Levin, Alex V. Less Clinical Dysmorphology. ., Post Author Corrections: October 02, 2018 Favorites PDF Get Content & Permissions
The first report of fibular agenesis, tibial campomelia, and oligosyndactyly syndrome with hydrocephaly Isik, Esra; Atik, Tahir; Ozkinay, Ferda Isik, Esra; Atik, Tahir; Ozkinay, Ferda Less Clinical Dysmorphology. ., Post Author Corrections: September 26, 2018 Favorites PDF Get Content & Permissions
Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature Grímsdóttir, Sigrún; Hove, Hanne B.; Kreiborg, Sven; More Grímsdóttir, Sigrún; Hove, Hanne B.; Kreiborg, Sven; Ek, Jakob; Johansen, Anders; Darvann, Tron A.; Hermann, Nuno V. Less Clinical Dysmorphology. ., Post Author Corrections: September 25, 2018 Favorites PDF Get Content & Permissions
Intrafamilial variability of clinical features in distal arthrogryposis type 2B de Burca, Anna; Ioannou, Christos; Vandersteen, Anthony; More de Burca, Anna; Ioannou, Christos; Vandersteen, Anthony; Pope, Francis M.; Cilliers, Deirdre D. Less Clinical Dysmorphology. ., Post Author Corrections: September 13, 2018 Favorites PDF Get Content & Permissions
Type VI syndactyly with skeletal dysplasia Sasaki, Erina; Phelan, Ethna; Brenner, Clare; More Sasaki, Erina; Phelan, Ethna; Brenner, Clare; Brosnahan, Donal; Reardon, William Less Clinical Dysmorphology. ., Post Author Corrections: August 22, 2018 Favorites PDF Get Content & Permissions
Congenital lateral abdominal wall defect in two Congolese children Mubungu, Gerrye; Kadima, Bertin; Lumaka, Aimé; More Mubungu, Gerrye; Kadima, Bertin; Lumaka, Aimé; Mbayabo, Gloire; Lukusa Tshilobo, Prosper; Devriendt, Koenraad Less Clinical Dysmorphology. ., Post Author Corrections: August 22, 2018 Favorites PDF Get Content & Permissions
The second report on spondyloepimetaphyseal dysplasia, aggrecan type Fukuhara, Yasuyuki; Cho, Sung Y.; Miyazaki, Osamu; More Fukuhara, Yasuyuki; Cho, Sung Y.; Miyazaki, Osamu; Hattori, Atsushi; Seo, Joo-Hyun; Mashima, Ryuichi; Kosuga, Motomichi; Fukami, Maki; Jin, Dong-Kyu; Okuyama, Torayuki; Nishimura, Gen Less Clinical Dysmorphology. ., Post Author Corrections: August 17, 2018 Favorites PDF Get Content & Permissions
