Results 111 to 120 of about 500 (134)

Human stem cell model of neural crest cell differentiation reveals a requirement of SF3B4 in survival, maintenance, and differentiation. [PDF]

Dev Dyn
Griffin C, Saint-Jeannet JP.
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Genetic and environmental factors contributing to anophthalmia and microphthalmia: Current understanding and future directions. [PDF]

World J Clin Pediatr
Goyal S, Tibrewal S, Ratna R, Vanita V.
europepmc   +1 more source

Fibroblast growth factor 8: Multifaceted role in development and developmental disorder. [PDF]

Genes Dis
Yin H, Duan L, Wang Z, Liu L, Shen J.
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Exploring skeletal disorders in cattle and sheep: a WGS-based framework for diagnosis and classification. [PDF]

Genet Sel Evol
Jacinto J, Letko A, Gentile A, Otter A, Floyd T, Collins R, Richey M, Carty H, Scholes S, Jones A, Fuller H, Häfliger IM, Strugnell B, Studer E, Benazzi C, Bolcato M, Starič J, Diana A, Weber J, Freick M, Lühken G, Tammen I, Kraft DCE, Lindgren CM, Sickinger M, Soto S, O'Rourke BA, Agerholm JS, Drögemüller C.   +28 more
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Mandibulofacial dysostosis with microcephaly: A case presenting with seizures

Brain and Development, 2017
We report a case of mandibulofacial dysostosis with microcephaly presenting with seizures. The proband, a 6-year-old Korean boy, had microcephaly, malar and mandibular hypoplasia, and deafness. He showed developmental delay and had suffered recurrent seizures beginning at 21months of age. Electroencephalography revealed occasional spike discharges from
Mari, Matsuo, Akemi, Yamauchi, Yasushi, Ito, Masako, Sakauchi, Toshiyuki, Yamamoto, Nobuhiko, Okamoto, Yoshinori, Tsurusaki, Noriko, Miyake, Naomichi, Matsumoto, Kayoko, Saito   +9 more
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Clinical and molecular delineation of mandibulofacial dysostosis with microcephaly in six Korean patients: When to consider EFTUD2 analysis?

European Journal of Medical Genetics, 2022
Mandibulofacial dysostosis with microcephaly (MFDM, OMIM#610536) is an extremely rare genetic syndrome characterised by microcephaly, external ear deformity, hearing loss, and distinct facial appearance, including zygomatic hypoplasia and micrognathia.
Jae Hui Ryu, Hwa Young Kim, Jung Min Ko, Man Jin Kim, Moon-Woo Seong, Byung Yoon Choi, Jong Hee Chae   +6 more
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A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate

Clinical Dysmorphology, 2006
We report on two new Brazilian cases and reviewed two previously reported patients with a characteristic combination of signs including mandibulofacial dysostosis, a clinical suggestion of trigonocephaly, microcephaly, unusual ears with skin tags, and cleft palate.
Maria Leine, Guion-Almeida, Roseli Maria, Zechi-Ceide, Siulan, Vendramini, Alfredo Tabith, Ju Nior   +3 more
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Mandibulofacial dysostosis with microcephaly syndrome diagnosed by prenatal exome sequencing: a case report

European Gynecology & Obstetrics, 2021
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare gene deletion syndrome caused by a heterozygous pathogenic variant or deletion in the EFTUD2 gene. Typical features described in affected patients include developmental delay, microcephaly, micrognathia, malar hypoplasia, esophageal atresia and congenital heart disease, among others.
Feliu, Silvia, Palacios, Gabriela, Clua, Elisabet, Prats, Pilar, Albaigés, Gerard, Rodriguez, Alberto, Serra, Bernat   +6 more
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Array‐CGH is an effective first‐tier diagnostic test for EFTUD2‐associated congenital mandibulofacial dysostosis with microcephaly

Clinical Genetics, 2013
Mandibulofacial dysostosis with microcephaly (MFDM) is a sporadic malformation syndrome with severe craniofacial abnormalities, microcephaly, developmental delay, and dysmorphic features. Most cases of clinically diagnosed MFDM remain genetically unexplained, and to the best of our knowledge a total of 35 patients, 31 different mutations, 4 deletions ...
S K, Gandomi, M, Parra, D, Reeves, V, Yap, C-L, Gau   +4 more
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