Literature DB >> 5703222

Brachydactyly and pseudo-pseudohypoparathyroidism.

K P Hertzog.   

Abstract

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Mesh：

Year:  1968        PMID： 5703222     DOI： 10.1017/s1120962300012622

Source DB:  PubMed          Journal:  Acta Genet Med Gemellol (Roma)        ISSN： 0001-5660


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  8 in total

1.  Familial combination of brachydactyly, type E and atrial septal defect, type II.

Authors:  A Czeizel; P Göblyös
Journal:  Eur J Pediatr       Date:  1989-11       Impact factor: 3.183

2.  Classification and identification of inherited brachydactylies.

Authors:  N Fitch
Journal:  J Med Genet       Date:  1979-02       Impact factor: 6.318

3.  Mineralization of the central nervous system in pseudopseudohypoparathyroidism (PPH).

Authors:  A W Dudley; H Hawkins
Journal:  J Neurol Neurosurg Psychiatry       Date:  1970-04       Impact factor: 10.154

4.  Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene.

Authors:  Aleksander Jamsheer; Anna Sowińska-Seidler; Ewelina M Olech; Magdalena Socha; Kazimierz Kozłowski; Antoni Pyrkosz; Tomasz Trzeciak; Anna Materna-Kiryluk; Anna Latos-Bieleńska
Journal:  J Hum Genet       Date:  2016-01-14       Impact factor: 3.172

Review 5.  Brachydactyly E: isolated or as a feature of a syndrome.

Authors:  Arrate Pereda; Intza Garin; Maria Garcia-Barcina; Blanca Gener; Elena Beristain; Ane Miren Ibañez; Guiomar Perez de Nanclares
Journal:  Orphanet J Rare Dis       Date:  2013-09-12       Impact factor: 4.123

6.  Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism.

Authors:  Jihong Bae; Hong Seok Choi; So Young Park; Do Eun Lee; Sihoon Lee
Journal:  Endocrinol Metab (Seoul)       Date:  2018-06

7.  A 3.06-Mb interstitial deletion on 12p11.22-12.1 caused brachydactyly type E combined with pectus carinatum.

Authors:  Jia Huang; Hong-Yan Liu; Rong-Rong Wang; Hai Xiao; Dong Wu; Tao Li; Ying-Hai Jiang; Xue Zhang
Journal:  Chin Med J (Engl)       Date:  2019-07-20       Impact factor: 2.628

Review 8.  Brachydactyly.

Authors:  Samia A Temtamy; Mona S Aglan
Journal:  Orphanet J Rare Dis       Date:  2008-06-13       Impact factor: 4.123
  8 in total

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