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. 28(1):1-6, January 2019. Abstract Abstract Favorites PDF Get Content & Permissions Abstract:
Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients Nampoothiri, Sheela; Elcioglu, Nursel H.; Koca, Suleyman S.; More Nampoothiri, Sheela; Elcioglu, Nursel H.; Koca, Suleyman S.; Yesodharan, Dhanya; KK, Chandrababu; Krishnan, Vinod V; Bhat, Meenakshi; Mohandas Nair K, ; Radhakrishnan, Natasha; Kappanayil, Mahesh; Sheth, Jayesh J.; Alves, Sandra; Coutinho, Francisca; Friez, Michael J.; Pauli, Richard M.; Unger, Sheila; Superti-Furga, Andrea; Leroy, Jules G.; Cathey, Sara S. Less Clinical Dysmorphology. 28(1):7-16, January 2019. 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. 28(1):17-21, January 2019. Abstract Abstract Favorites PDF Get Content & Permissions Abstract:
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. 28(1):22-25, January 2019. Abstract Abstract Favorites PDF Get Content & Permissions Abstract:
The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported 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. 28(1):26-29, January 2019. Favorites PDF Get Content & Permissions
Type VI syndactyly with skeletal dysplasia: a new syndrome? Sasaki, Erina; Phelan, Ethna; Brenner, Clare; More Sasaki, Erina; Phelan, Ethna; Brenner, Clare; Brosnahan, Donal; Reardon, William Less Clinical Dysmorphology. 28(1):30-34, January 2019. 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. 28(1):35-37, January 2019. 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. 28(1):38-40, January 2019. 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. 28(1):41-45, January 2019. Favorites PDF Get Content & Permissions
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. 28(1):46-49, January 2019. 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. 28(1):50-52, January 2019. Favorites PDF Get Content & Permissions
Chromosome 12q24.31 microdeletion and congenital heart disease: a case report and review of the literature Bhatia, Neha S.; Lim, Jiin-Ying; Brett, Maggie S.; More Bhatia, Neha S.; Lim, Jiin-Ying; Brett, Maggie S.; Tan, Ene-Choo; Law, Hai Yang; Thomas, Biju; Choo, Jonathan; Lai, Angeline H.M.; Jamuar, Saumya S. Less Clinical Dysmorphology. 28(1):53-56, January 2019. Favorites PDF Get Content & Permissions
