scholarly journals Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome

2020 ◽  
Author(s):  
Keyword(s):  
Tibial Hemimelia ◽  
Triphalangeal Thumb

scholarly journals Microduplication of 7q36.3 encompassing the SHH long-range regulator (ZRS) in a patient with triphalangeal thumb-polysyndactyly syndrome and congenital heart disease

2016 ◽  
Vol 15 (2) ◽  
pp. 793-797 ◽  
Author(s):  
Zhenghua Liu ◽  
Ni Yin ◽  
Lianghui Gong ◽  
Zhiping Tan ◽  
Bangliang Yin ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Long Range ◽  
Congenital Heart ◽  
Triphalangeal Thumb

scholarly journals Intrafamilial variability of the triphalangeal thumb phenotype in a Dutch population: Evidence for phenotypic progression over generations?

2017 ◽  
Vol 173 (11) ◽  
pp. 2898-2905 ◽  
Author(s):  
Martijn Baas ◽  
Jacob W.P. Potuijt ◽  
Steven E.R. Hovius ◽  
A. Jeannette M. Hoogeboom ◽  
Robert-Jan H. Galjaard ◽  
...  
Keyword(s):  
Dutch Population ◽  
Intrafamilial Variability ◽  
Triphalangeal Thumb

A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1–17p13.3

2008 ◽  
Vol 123 (6) ◽  
pp. 625-631 ◽  
Author(s):  
Karina Lezirovitz ◽  
Sylvia Regina Pedrosa Maestrelli ◽  
Nelson Henderson Cotrim ◽  
Paulo A. Otto ◽  
Peter L. Pearson ◽  
...  
Keyword(s):  
Chromosome Region ◽  
Tibial Hemimelia

scholarly journals Usual Presentation Has Odds: Unilateral Tibial Hemimelia in One of Dizygotic Twins

Cureus ◽  
2021 ◽  
Author(s):  
Muath Mamdouh Mahmod Al-Chalabi ◽  
Wan Azman Wan Sulaiman
Keyword(s):  
Dizygotic Twins ◽  
Tibial Hemimelia

A novel mutation in theSHHlong-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency

2012 ◽  
Vol 158A (10) ◽  
pp. 2610-2615 ◽  
Author(s):  
Mohammad M. Al-Qattan ◽  
Ibrahim Al Abdulkareem ◽  
Yazied Al Haidan ◽  
Mohammed Al Balwi
Keyword(s):  
Novel Mutation ◽  
Preaxial Polydactyly ◽  
Triphalangeal Thumb

scholarly journals Phenotypic analysis of triphalangeal thumb and associated hand malformations.

1994 ◽  
Vol 31 (6) ◽  
pp. 462-467 ◽  
Author(s):  
J Zguricas ◽  
P J Snijders ◽  
S E Hovius ◽  
P Heutink ◽  
B A Oostra ◽  
...  
Keyword(s):  
Phenotypic Analysis ◽  
Triphalangeal Thumb

Tibial Hemimelia

2015 ◽  
pp. 1-7
Author(s):  
Harold Chen
Keyword(s):  
Tibial Hemimelia

HEREDITARY TRIPHALANGEAL THUMB

1962 ◽  
Vol 53 (6) ◽  
pp. 259-265 ◽  
Author(s):  
Alfred B. Swanson ◽  
Kenneth S. Brown
Keyword(s):  
Triphalangeal Thumb

Ipsilateral femoral bifurcation and tibial hemimelia. A case report

1976 ◽  
Vol 58 (5) ◽  
pp. 712-713 ◽  
Author(s):  
JA Ogden
Keyword(s):  
Case Report ◽  
Tibial Hemimelia
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