Results 111 to 120 of about 1,362 (197)

"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype. [PDF]

Am J Med Genet A, 2013
Luquetti DV, Hing AV, Rieder MJ, Nickerson DA, Turner EH, Smith J, Park S, Cunningham ML.   +7 more
europepmc   +1 more source

First case report of Nager syndrome patient from Georgia. [PDF]

SAGE Open Med Case Rep, 2022
Tkemaladze T, Bregvadze K, Kvaratskhelia E, Kapoor MA, Orjonikidze N, Abzianidze E.   +5 more
europepmc   +1 more source

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. [PDF]

Am J Hum Genet, 2012
Lines MA, Huang L, Schwartzentruber J, Douglas SL, Lynch DC, Beaulieu C, Guion-Almeida ML, Zechi-Ceide RM, Gener B, Gillessen-Kaesbach G, Nava C, Baujat G, Horn D, Kini U, Caliebe A, Alanay Y, Utine GE, Lev D, Kohlhase J, Grix AW, Lohmann DR, Hehr U, Böhm D, FORGE Canada Consortium, Majewski J, Bulman DE, Wieczorek D, Boycott KM.   +27 more
europepmc   +1 more source

Prenatal Ultrasound and Genetic Diagnosis of <i>EFTUD2</i> Haploinsufficiency in Two Fetuses: A Case Series. [PDF]

Appl Clin Genet
Kucińska A, Dudarewicz L, Nowakowska BA, Geremek M, Wysocka U, Przesór Ł, Barańska D, Grzelak P, Gach A.   +8 more
europepmc   +1 more source

Investigating the emerging role of spliceosomal variants in craniofacial developmental disorders [PDF]

, 2021
Wood, Katherine
core  

Treacher-Collins Syndrome With Anorectal Malformation: A Rarity and a Challenge for the Surgical Team. [PDF]

Cureus
Monyei MO, Edena ME, Olodiama F, Ekene OA.   +3 more
europepmc   +1 more source

A New Case of Nager Syndrome as a Rare Cause of Acrofacial Dysostosis. [PDF]

Mol Syndromol
Aglamis Senel O, Kilic E.
europepmc   +1 more source

Mandibulofacial Dysostosis in an African Infant [PDF]

Archives of Disease in Childhood, 1953
openaire   +2 more sources

Sindrome de Nager: Presentacion de caso

Revista de Ciencias Médicas de Pinar del Río
Elayne E Santana Hernández
doaj  

Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster. [PDF]

Am J Med Genet A, 2007
Stevenson DA, Bleyl SB, Maxwell T, Brothman AR, South ST.   +4 more
europepmc   +1 more source