Mowat Wilson Syndrome Associated With Pseudo Rocker Bottom Feet Deformity
暂无分享,去创建一个
[1] S. Savasta,et al. Sleep in Mowat-Wilson Syndrome: a clinical and video-polysomnographic study. , 2019, Sleep medicine.
[2] Zhen Zhang,et al. [Clinical and genetic features of Mowat-Wilson syndrome: an analysis of 3 cases]. , 2019, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.
[3] L. Li,et al. [ZEB2 variation in a patient with Mowat-Wilson syndrome]. , 2019, Zhonghua er ke za zhi = Chinese journal of pediatrics.
[4] A. Sun,et al. Mowat-Wilson Syndrome Presenting With Purpura Fulminans , 2019, Pediatrics.
[5] F. Fay,et al. Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients , 2018, Human Genome Variation.
[6] Camilo F Mestra,et al. Incidental finding of pulmonary arterial sling during patent ductus arteriosus surgery in a patient with Mowat–Wilson syndrome , 2018, Cardiology in the Young.
[7] L. Garavelli,et al. Anesthesia in Mowat-Wilson syndrome: information on 11 Italian patients , 2018, Pediatric reports.
[8] Hoon-Chul Kang,et al. Mowat-Wilson syndrome presenting with fever-associated seizures. , 2017, Epileptic disorders : international epilepsy journal with videotape.
[9] F. Fabbro,et al. Electrical status epilepticus during sleep in Mowat–Wilson syndrome , 2017, Brain and Development.
[10] L. Kitanovski,et al. Co-occurrence of rhabdomyosarcoma and Mowat-Wilson syndrome: is there a connection? , 2017, Clinical dysmorphology.
[11] M. Butler,et al. A Novel Partial Duplication of ZEB2 and Review of ZEB2 Involvement in Mowat-Wilson Syndrome , 2017, Molecular Syndromology.
[12] S. Einfeld,et al. Incontinence and psychological symptoms in individuals with Mowat-Wilson Syndrome. , 2017, Research in developmental disabilities.
[13] H. Pan,et al. Experience of Mowat–Wilson syndrome prenatal diagnosis for a Chinese family , 2016, Clinical case reports.
[14] S. Agarwala,et al. Difficult airway in Mowat-Wilson syndrome. , 2016, Journal of clinical anesthesia.
[15] Yogesh V Gavali,et al. Anaesthetic management of Mowat–Wilson syndrome , 2016, Indian journal of anaesthesia.
[16] Meredith Wilson,et al. Sleep disturbance in Mowat–Wilson syndrome , 2016, American journal of medical genetics. Part A.
[17] S. Moore,et al. Novel Zeb2 gene variation in the Mowat Wilson syndrome (MWS). , 2016, Journal of pediatric surgery.
[18] G. Utine,et al. A Diagnosis to Consider in Intellectual Disability , 2016, Journal of child neurology.
[19] P. Puri,et al. Hirschsprung’s disease in children with Mowat–Wilson syndrome , 2015, Pediatric Surgery International.
[20] E. Ferris Villanueva,et al. Hirschsprung disease associated with Mowat-Wilson syndrome: report of a case. , 2015, Nutricion hospitalaria.
[21] G. Tanteles,et al. Ocular phenotype of Mowat-Wilson syndrome in the first reported Cypriot patients: an under-recognized association. , 2014, Clinical dysmorphology.
[22] K. R. Jun,et al. Mowat-Wilson syndrome detected by using high resolution microarray. , 2013, Gene.
[23] A. C. Santos,et al. Mowat–Wilson syndrome: the first report of an association with central nervous system tumors , 2013, Child's Nervous System.
[24] B. V. van Bon,et al. Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient , 2012, Case reports in genetics.
[25] M. Zollino,et al. A case of Mowat-Wilson syndrome caused by a truncating mutation within exon 8 of the ZEB2 gene. , 2012, The Turkish journal of pediatrics.
[26] R. Møller,et al. [Mowat-Wilson syndrome: a report of three Danish cases]. , 2011, Ugeskrift for laeger.
[27] S. Balasubramaniam,et al. Mowat-Wilson syndrome: the first two Malaysian cases. , 2010, Singapore medical journal.
[28] R. Newbury-Ecob,et al. Supernumerary Intestinal Muscle Coat in a Patient with Hirschsprung Disease/Mowat-Wilson Syndrome , 2010, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.
[29] R. Śmigiel,et al. Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient , 2010, Journal of Applied Genetics.
[30] G. Cuturilo,et al. [Mowat-Wilson syndrome--a case report]. , 2009, Srpski arhiv za celokupno lekarstvo.
[31] Z. Tümer,et al. Mowat–Wilson syndrome: an underdiagnosed syndrome? , 2008, Clinical genetics.
[32] E. Paučić-Kirinčić,et al. Mowat–Wilson syndrome: the clinical report with the novel mutation in ZFHX1B (exon 8: c.2372del C; p.T791fsX816) , 2008, Child's Nervous System.
[33] N. Wakamatsu,et al. Variations in aganglionic segment length of the enteric neural plexus in Mowat-Wilson syndrome. , 2005, Journal of pediatric surgery.
[34] A. Rauch,et al. Mowat–Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity , 2004, Journal of Medical Genetics.
[35] Denise Horn,et al. Facial phenotype allows diagnosis of Mowat–Wilson syndrome in the absence of hirschsprung disease , 2004, American journal of medical genetics. Part A.
[36] A. Rauch,et al. "Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene. , 2002, American journal of medical genetics.
[37] B. Kerr,et al. Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. , 1998, Journal of medical genetics.
[38] I. Lurie,et al. Phenotypic variability of del(2) (q22-q23): report of a case with a review of the literature. , 1994, Genetic counseling.