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Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare genetic limb malformation syndrome which is characterized by thumb triphalangy , polysyndactyly of the hand and foot, and hypoplasia/aplasia of the tibia bone. Additional features include short stature, radio-ulnar synostosis, ectrodactyly and abnormalities of the carpals and metatarsals.[1] [2] [3] LMBR1 gene.[4]
References [ edit ]
^ "OMIM Entry - # 188740 - TIBIA, HYPOPLASIA OR APLASIA OF, WITH POLYDACTYLY; THYP" . omim.org . Retrieved 2022-05-20 .
^ Norbnop, Phatchara; Srichomthong, Chalurmpon; Suphapeetiporn, Kanya; Shotelersuk, Vorasuk (August 2014). "ZRS 406A>G mutation in patients with tibial hypoplasia, polydactyly and triphalangeal first fingers" . Journal of Human Genetics . 59 8 ): 467–470. doi :10.1038/jhg.2014.50 ISSN 1435-232X . PMID 24965254 . S2CID 21552381 .
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R e t r i e v e d f r o m " https://en.wikipedia.org/w/index.php?title=Tibial_hemimelia-polysyndactyly-triphalangeal_thumb_syndrome&oldid=1207687819 " C a t e g o r i e s : ● G e n e t i c s y n d r o m e s ● R a r e g e n e t i c s y n d r o m e s ● S y n d r o m e s a f f e c t i n g s t a t u r e ● C o n g e n i t a l d i s o r d e r s o f m u s c u l o s k e l e t a l s y s t e m ● G e n e t i c d i s o r d e r s t u b s H i d d e n c a t e g o r i e s : ● C S 1 m a i n t : n u m e r i c n a m e s : a u t h o r s l i s t ● O r p h a n e d a r t i c l e s f r o m J u n e 2 0 2 2 ● A l l o r p h a n e d a r t i c l e s ● A r t i c l e s w i t h s h o r t d e s c r i p t i o n ● S h o r t d e s c r i p t i o n m a t c h e s W i k i d a t a ● A l l s t u b a r t i c l e s
● T h i s p a g e w a s l a s t e d i t e d o n 1 5 F e b r u a r y 2 0 2 4 , a t 1 2 : 4 2 ( U T C ) . ● T e x t i s a v a i l a b l e u n d e r t h e C r e a t i v e C o m m o n s A t t r i b u t i o n - S h a r e A l i k e L i c e n s e 4 . 0 ;
a d d i t i o n a l t e r m s m a y a p p l y . B y u s i n g t h i s s i t e , y o u a g r e e t o t h e T e r m s o f U s e a n d P r i v a c y P o l i c y . W i k i p e d i a ® i s a r e g i s t e r e d t r a d e m a r k o f t h e W i k i m e d i a F o u n d a t i o n , I n c . , a n o n - p r o f i t o r g a n i z a t i o n . ● P r i v a c y p o l i c y ● A b o u t W i k i p e d i a ● D i s c l a i m e r s ● C o n t a c t W i k i p e d i a ● C o d e o f C o n d u c t ● D e v e l o p e r s ● S t a t i s t i c s ● C o o k i e s t a t e m e n t ● M o b i l e v i e w
