Results 111 to 120 of about 1,356 (192)

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

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 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

Sindrome de Nager: Presentacion de caso

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

Mandibulofacial Dysostosis in an African Infant [PDF]

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

Modeling craniofacial spliceosomopathies: a pathway toward deciphering disease mechanisms. [PDF]

Front Cell Dev Biol
Griffin C.
europepmc   +1 more source

Imaging of Treacher Collins syndrome: A case report. [PDF]

Radiol Case Rep
Khatiwada A, Thapa B, Pandit R, Bhandari D, Kc S.   +4 more
europepmc   +1 more source

Spliceosome protein EFTUD2: A potential pathogenetic factor in tumorigenesis and some developmental defects (Review). [PDF]

Mol Med Rep
Yin A, Zhu Q, Chen Y, Wang J.
europepmc   +1 more source