Literature DB >> 22406540

Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson.

Chiara Palka1, Ivana Antonucci, Melissa Alfonsi, Maria Francesca Bedeschi, Angelika Mohn, Faustina Lalatta, Francesco Chiarelli, Giandomenico Palka, Liborio Stuppia.   

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Year:  2012        PMID： 22406540     DOI： 10.1097/MCD.0b013e328350af23

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  1 in total

1.  A 6.3 Mb maternally derived microduplication of 20p13p12.2 in a fetus with Brachydactyly type D and related literature review.

Authors:  Guangquan Chen; Shiyi Xiong; Gang Zou; Fengyu Wu; Xiaoxing Qu; Salem Alawbathani; Luming Sun
Journal:  Mol Cytogenet       Date:  2022-02-28       Impact factor: 2.009
  1 in total

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