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Quoted phrase not found in phrase index: "Neurodevelopmental disorder with poor growth and skeletal anomalies"
Page 1
DYSMORPHIC features and adult short stature: possible clinical markers of KBG syndrome.
Mattei D, Cavarzere P, Gaudino R, Antoniazzi F, Piacentini G. Mattei D, et al. Ital J Pediatr. 2021 Jan 25;47(1):15. doi: 10.1186/s13052-021-00961-5. Ital J Pediatr. 2021. PMID: 33494799 Free PMC article.
BACKGROUND: Growth monitoring is an essential part of primary health care in children and short stature is frequently regarded as a relatively early sign of poor health. The association of short stature and dysmorphic features should always lead to exclude an underl …
BACKGROUND: Growth monitoring is an essential part of primary health care in children and short stature is frequently regarded as a r …
Identification of the KCNJ2 Mutation in a Korean Family with Andersen-Tawil Syndrome and Developmental Delay.
Kim NR, Jang JH, Jeon GW, Cho EH, Sin JB. Kim NR, et al. Ann Clin Lab Sci. 2016 Winter;46(1):110-3. Ann Clin Lab Sci. 2016. PMID: 26927354
Andersen-Tawil syndrome is a rare autosomal dominant disease characterized by the clinical triad of periodic paralysis, long QT with ventricular arrhythmias, and dysmorphic facial or skeletal features. However, the phenotypic heterogeneity and poor disease awareness …
Andersen-Tawil syndrome is a rare autosomal dominant disease characterized by the clinical triad of periodic paralysis, long QT with ventric …
Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology.
Zampino G, Mastroiacovo P, Ricci R, Zollino M, Segni G, Martini-Neri ME, Neri G. Zampino G, et al. Am J Med Genet. 1993 Aug 15;47(2):176-83. doi: 10.1002/ajmg.1320470210. Am J Med Genet. 1993. PMID: 8213903 Review.
In 1977 Costello described two unrelated children with poor postnatal growth, mental retardation, curly hair, coarse face of similar appearance, and nasal papillomata, suggesting the existence of a previously undescribed syndrome of uncertain familial nature [Costel …
In 1977 Costello described two unrelated children with poor postnatal growth, mental retardation, curly hair, coarse face of s …
Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis.
Mari F, Hermanns P, Giovannucci-Uzielli ML, Galluzzi F, Scott D, Lee B, Renieri A, Unger S, Zabel B, Superti-Furga A. Mari F, et al. Eur J Hum Genet. 2009 Sep;17(9):1141-7. doi: 10.1038/ejhg.2009.27. Epub 2009 Mar 11. Eur J Hum Genet. 2009. PMID: 19277063 Free PMC article.
In their studies on the molecular basis of osteopoikilosis, Menten et al have identified three individuals with microdeletions on chromosome 12q14.4, which removed several genes including LEMD3, the osteopoikilosis gene. In addition to osteopoikilosis, affected individuals had …
In their studies on the molecular basis of osteopoikilosis, Menten et al have identified three individuals with microdeletions on chromosome …