A very rare skeletal dysplasia: spondyloepimetaphyseal dysplasia, sponastrime type Kalaoglu, Elif Ece; Turkyilmaz, Ayberk; Geckinli, Bilgen Bilge; More Kalaoglu, Elif Ece; Turkyilmaz, Ayberk; Geckinli, Bilgen Bilge; Arslan Ates, Esra; Mentes, Ali; Arman, Ahmet Less Clinical Dysmorphology. Post Author Corrections: April 12, 2021 Favorites PDF Get Content & Permissions Buy PAP
6p21.33 Deletion encompassing CSNK2B is associated with relative macrocephaly, facial dysmorphism, and mild intellectual disability Ohashi, Ikuko; Kuroda, Yukiko; Enomoto, Yumi; More Ohashi, Ikuko; Kuroda, Yukiko; Enomoto, Yumi; Murakami, Hiroaki; Masuno, Mitsuo; Kurosawa, Kenji Less Clinical Dysmorphology. Post Author Corrections: March 19, 2021 Favorites PDF Get Content & Permissions Buy PAP
Second reported individual with a partial STAG2 deletion: middle interhemispheric variant holoprosencephaly in STAG2-related cohesinopathy Cratsenberg, Drew M.; Winningham, Peter J.; Starr, Lois J. Cratsenberg, Drew M.; Winningham, Peter J.; Starr, Lois J. Less Clinical Dysmorphology. Post Author Corrections: March 19, 2021 Favorites PDF Get Content & Permissions Buy PAP
Prenatal differential diagnosis of fibular agenesis, tibial campomelia and oligosyndactyly Yucel Celik, Ozge; Gultekin Calik, Mine; Keles, Ayse; More Yucel Celik, Ozge; Gultekin Calik, Mine; Keles, Ayse; Tos, Tulay; Yucel, Aykan; Sahin, Dilek Less Clinical Dysmorphology. Post Author Corrections: February 17, 2021 Favorites PDF Get Content & Permissions Buy PAP
Automated reanalysis, a novel way to diagnose an ultra-rare condition: Fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1) Sabir, Ataf H.; Singhal, Juhi; Man, Jessica; More Sabir, Ataf H.; Singhal, Juhi; Man, Jessica; Mensah, Nana Ekuntan; Ahn, Joo Wook; Cheung, Moira S.; Irving, Melita Less Clinical Dysmorphology. Post Author Corrections: February 17, 2021 Abstract Abstract Favorites PDF Get Content & Permissions Buy PAP
Rare chromosomal aberrations detected in children with multiple congenital anomalies: utility of multiple ligation dependant probe amplification for developing countries Pulipaka, Shirisha; Kaur, Anit; Bhatia, Prateek; More Pulipaka, Shirisha; Kaur, Anit; Bhatia, Prateek; Panigrahi, Inusha; Kaur, Anupriya Less Clinical Dysmorphology. Post Author Corrections: April 12, 2021 Abstract Abstract Favorites PDF Get Content & Permissions Buy PAP
Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndrome Aerden, Mio; Vallaeys, Lore; Holvoet, Maureen; More Aerden, Mio; Vallaeys, Lore; Holvoet, Maureen; De Waele, Liesbeth; Van Den Bogaert, Kris; Devriendt, Koen Less Clinical Dysmorphology. Post Author Corrections: February 17, 2021 Abstract Abstract Favorites PDF Get Content & Permissions Buy PAP
Clinical delineation of an adult female patient with a rare interstitial 10q24.32q25.1 microdeletion Jehee, Fernanda S.; Bouma, Tia; Bouman, Arjan Jehee, Fernanda S.; Bouma, Tia; Bouman, Arjan Less Clinical Dysmorphology. Post Author Corrections: February 08, 2021 Abstract Abstract Favorites PDF Get Content & Permissions Buy PAP
