Results 21 to 30 of about 2,017 (144)

A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report. [PDF]

Cold Spring Harb Mol Case Stud, 2022
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare genetic disorder inherited in an autosomal dominant pattern. Major characteristics include developmental delay, craniofacial malformations such as malar and mandibular hypoplasia, and ear ...
Kohailan M, Al-Saei O, Padmajeya S, Aamer W, Elbashir N, Al-Shabeeb Akil A, Kamboh AR, Fakhro K.   +7 more
europepmc   +2 more sources

A novel pathogenic variant in POLR1D (c.220dup, p.His74ProfsTer8) causes Treacher Collins syndrome type 2 in a Chinese patient: a case report [PDF]

BMC Pediatrics
Introduction Treacher Collins syndrome type 2 (TCS2; OMIM# 613717) is a rare genetic disorder of craniofacial development caused by pathogenic variants in the POLR1D gene. The characteristic clinical features include downward-slanting palpebral fissures,
Hui Zhu, Min Du, Shuyao Zhu, Yu Huang, Lan Zeng, Yu Kuai, Fu Xiong, Ying Pang   +7 more
doaj   +2 more sources

Mandibulofacial Dysostosis Attributed to a Recessive Mutation of CYP26C1 in Hereford Cattle. [PDF]

Genes (Basel), 2020
In spring 2020, six Hereford calves presented with congenital facial deformities attributed to a condition we termed mandibulofacial dysostosis (MD). Affected calves shared hallmark features of a variably shortened and/or asymmetric lower mandible and ...
Sieck RL, Fuller AM, Bedwell PS, Ward JA, Sanders SK, Xiang SH, Peng S, Petersen JL, Steffen DJ.   +8 more
europepmc   +2 more sources

Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. [PDF]

Am J Hum Genet, 2015
We report three individuals with a cranioskeletal malformation syndrome that we define as acrofacial dysostosis, Cincinnati type. Each individual has a heterozygous mutation in POLR1A, which encodes a core component of RNA polymerase 1.
Weaver KN, Watt KE, Hufnagel RB, Navajas Acedo J, Linscott LL, Sund KL, Bender PL, König R, Lourenco CM, Hehr U, Hopkin RJ, Lohmann DR, Trainor PA, Wieczorek D, Saal HM.   +14 more
europepmc   +2 more sources

“Mandibulofacial dysostosis with microcephaly” caused by EFTUD2 mutations: Expanding the phenotype† [PDF]

American Journal of Medical Genetics, Part A, 2013
Daniela V Luquetti, Mark J Rieder, Michael L Cunningham   +2 more
exaly   +2 more sources

Viable Ednra ^Y129F mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation. [PDF]

Mamm Genome, 2016
Animal models resembling human mutations are valuable tools to research the features of complex human craniofacial syndromes. This is the first report on a viable dominant mouse model carrying a non-synonymous sequence variation within the endothelin ...
Sabrautzki S, Sandholzer MA, Lorenz-Depiereux B, Brommage R, Przemeck G, Vargas Panesso IL, Vernaleken A, Garrett L, Baron K, Yildirim AO, Rozman J, Rathkolb B, Gau C, Hans W, Hoelter SM, Marschall S, Stoeger C, Becker L, Fuchs H, Gailus-Durner V, Klingenspor M, Klopstock T, Lengger C, Stefanie L, Wolf E, Strom TM, Wurst W, de Angelis MH.   +27 more
europepmc   +4 more sources

The Core Splicing Factors EFTUD2, SNRPB and TXNL4A Are Essential for Neural Crest and Craniofacial Development

Journal of Developmental Biology, 2022
Mandibulofacial dysostosis (MFD) is a human congenital disorder characterized by hypoplastic neural-crest-derived craniofacial bones often associated with outer and middle ear defects.
Byung-Yong Park, Melanie Tachi-Duprat, Chibuike Ihewulezi, Arun Devotta, Jean-Pierre Saint-Jeannet   +4 more
doaj   +1 more source

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

American Journal of Medical Genetics, Part A, 2007
David A Stevenson, Sarah T South, Arthur R Brothman   +2 more
exaly   +2 more sources

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia. [PDF]

Am J Hum Genet, 2015
The endothelin receptor type A (EDNRA) signaling pathway is essential for the establishment of mandibular identity during development of the first pharyngeal arch.
Gordon CT, Weaver KN, Zechi-Ceide RM, Madsen EC, Tavares AL, Oufadem M, Kurihara Y, Adameyko I, Picard A, Breton S, Pierrot S, Biosse-Duplan M, Voisin N, Masson C, Bole-Feysot C, Nitschké P, Delrue MA, Lacombe D, Guion-Almeida ML, Moura PP, Garib DG, Munnich A, Ernfors P, Hufnagel RB, Hopkin RJ, Kurihara H, Saal HM, Weaver DD, Katsanis N, Lyonnet S, Golzio C, Clouthier DE, Amiel J.   +32 more
europepmc   +2 more sources

Obstructive Sleep Apnea in Adults with Treacher Collins Syndrome is Related with Altered Anthropometric Measurements, Increased Blood Pressure and Impaired Quality of Life

Sleep Science, 2023
Objectives This study aimed at evaluating the risk for obstructive sleep apnea (OSA) and its frequency in adults with Treacher Collins syndrome (TCS).
Leide Vilma Fidélis-da Silva, Sergio Henrique Kiemle-Trindade, Maria Noel Marzano-Rodrigues, Laís Hollara Medeiros, Cristiano Tonello, Ivy Kiemle Trindade-Suedam   +5 more
doaj   +1 more source