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Basson, Craig T.; Solomon, Scott D.; Weissman, Barbara; MacRae, Calum A.; Poznanski, Andrew K.; Prieto, Felix; Fuente, Salvador Ruiz de la; Pease, William E.; Levin, S. E.; Holmes, Lewis B.; Seidman, J. G.; Seidman, Christine E. (1 March 1995).
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Holt–Oram syndrome, Brachydactyly-long thumb syndrome, Patent ductus arteriosus-bicuspid aortic valve syndrome and Heart-hand syndrome, Slovenian type are known to be autosomally dominant disorders.
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It is unknown if heart-hand syndromes are caused by shared or distinct genetic defects. It has been claimed that congenital heart diseases are caused by a limited number of shared genetic defects.
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It is an autosomal dominant disorder that affects bones in the arms and hands (the upper limbs) and may also cause heart problems. The syndrome includes an absent
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It has been confirmed that Patent ductus arteriosus-bicuspid aortic valve syndrome is a distinct syndrome from an allelic variant of
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664:"Heart-hand syndrome, Spanish type - Disease - Symptoms - Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
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Renou, L; Stora, S; Yaou, R B.; Volk, M; Sinkovec, M; Demay, L; Richard, P; Peterlin, B; Bonne, G (1 July 2008).
222:. Berk–Tabatznik syndrome is a condition with an unknown cause that shows symptoms of short stature, congenital
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Brachydactyly-long thumb syndrome is known to have been transmitted from male-to-male in a single instance.
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Described in one family. A unique feature in the syndrome is symmetric brachydactyly with long thumbs.
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730:"OMIM Entry - 604381 - PATENT DUCTUS ARTERIOSUS AND BICUSPID AORTIC VALVE WITH HAND ANOMALIES"
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Heart-hand syndrome type 3 is very rare and has been described only in three members of a
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Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
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Several people in multiple generations have had this type. It causes
230:. This condition is extremely rare with only two cases being found.
419:"Heart-hand syndrome of Slovenian type: a new kind of laminopathy"
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Skelley, Tao Le, Vikas
Bhushan, Nathan William (12 March 2012).
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685:"OMIM Entry - # 610140 - HEART-HAND SYNDROME, SLOVENIAN TYPE"
563:(8th ed.). New York: McGraw-Hill Medical. p. 357.
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Syndromes: rapid recognition and perioperative implications
158:, patent ductus arteriosus-bicuspid aortic valve syndrome,
709:"OMIM Entry - 112430 - LONG-THUMB BRACHYDACTYLY SYNDROME"
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Patent ductus arteriosus-bicuspid aortic valve syndrome
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189:. Is the most prevalent form of heart-hand syndrome.
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Heart-hand syndrome type 1 is more commonly known as
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In particular, it has problems with not using MEDMOS.
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473:"Hand Deformities and Heart Problems: A Case Report"
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As of July 2013, known heart-hand syndromes include
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that manifest with both heart and limb deformities.
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471:Satyajeet Roy; Monaliben Patel (16 January 2013).
118:has an autosomal dominant pattern of inheritance.
373:"Genetic Heterogeneity of Heart-Hand Syndromes"
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218:Heart-hand syndrome type 2 is also known as
27:Rare deformities of both the heart and hands
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629:"Orphanet: Heart hand syndrome type 3"
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627:RESERVED, INSERM US14 -- ALL RIGHTS.
606:. New York: McGraw-Hill. p. 94.
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262:Heart-hand syndrome, Slovenian type
256:Heart-hand syndrome, Slovenian type
160:heart hand syndrome, Slovenian type
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561:First aid for the USMLE step 2 CK
406:– via circ.ahajournals.org.
284:Brachydactyly-long thumb syndrome
278:Brachydactyly-long thumb syndrome
250:Heart-hand syndrome, Spanish type
240:Heart-hand syndrome, Spanish type
164:Heart-hand syndrome, Spanish type
156:brachydactyly-long thumb syndrome
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525:"Orphanet: Heart hand syndrome"
45:comply with Knowledge (XXG)'s
43:This article needs editing to
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499:"Heart-hand syndrome, type 1"
248:family. It is also known as
423:Journal of Medical Genetics
341:Congenital limb deformities
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234:Heart-hand syndrome type 3
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208:Heart-hand syndrome type 2
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175:Heart-hand syndrome type 1
600:"Berk–Tabatznik Syndrome"
497:Helton, Kathleen (1993).
300:. Hand anomalies include
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389:10.1161/01.CIR.91.5.1326
202:first degree heart block
435:10.1136/jmg.2008.060020
336:Congenital heart defect
272:ventricular tachycardia
220:Berk–Tabatznik syndrome
214:Berk–Tabatznik syndrome
152:Berk–Tabatznik syndrome
477:www.consultantlive.com
331:Cardiovascular disease
101:Atriodigital dysplasia
268:sudden cardiac death
198:atrial septal defect
137:Heart-hand syndromes
93:Heart-hand syndromes
55:improve the content
789:External resources
228:brachytelephalangy
187:Holt–Oram syndrome
181:Holt–Oram syndrome
148:Holt–Oram syndrome
116:Holt–Oram syndrome
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377:Circulation
194:radial bone
98:Other names
352:References
305:hypoplasia
302:metacarpal
579:cite book
124:Specialty
63:July 2017
819:Category
798:Orphanet
644:cite web
540:cite web
451:24964665
443:18611980
325:See also
311:Genetics
200:, and a
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270:due to
246:Spanish
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779:Q87.2
447:S2CID
170:Types
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650:link
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608:ISBN
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565:ISBN
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439:PMID
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226:and
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