Literature DB >> 3417298

Miller-Dieker syndrome and monosomy 17p13: a new case.

A Selypes1, A László.   

Abstract

A 12-year-old boy is described with multiple anomalies and a de novo terminal deletion of 17p13. Based on clinical examination, the Miller-Dieker syndrome was diagnosed.

Entities:  

Mesh：

Year:  1988        PMID： 3417298     DOI： 10.1007/BF00451469

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  7 in total

1.  LISSENCEPHALY IN 2 SIBLINGS.

Authors:  J Q MILLER
Journal:  Neurology       Date:  1963-10       Impact factor: 9.910

2.  A rapid banding technique for human chromosomes.

Authors:  M Seabright
Journal:  Lancet       Date:  1971-10-30       Impact factor: 79.321

3.  The Aarskog syndrome.

Authors:  C T Furukawa; B D Hall; D W Smith
Journal:  J Pediatr       Date:  1972-12       Impact factor: 4.406

4.  A familial syndrome of short stature associated with facial dysplasia and genital anomalies.

Authors:  D Aarskog
Journal:  J Pediatr       Date:  1970-11       Impact factor: 4.406

5.  Chromosome break points in clonal and nonclonal chromosome changes in human chronic lymphocytic leukemia.

Authors:  K Autio; J Schröder
Journal:  Hereditas       Date:  1982       Impact factor: 3.271

6.  The MIller-Dieker syndrome.

Authors:  K L Jones; E F Gilbert; E G Kaveggia; J M Opitz
Journal:  Pediatrics       Date:  1980-08       Impact factor: 7.124

7.  New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.

Authors:  R F Stratton; W B Dobyns; S D Airhart; D H Ledbetter
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132
  7 in total
  2 in total

1.  Miller-Dieker syndrome with ring chromosome 17.

Authors:  N Sharief; J Craze; D Summers; L Butler; C B Wood
Journal:  Arch Dis Child       Date:  1991-06       Impact factor: 3.791

Review 2.  Syndromes associated with simple calvarial and complex craniofacial anomalies.

Authors:  P Iannetti; L Chessa; G Iannetti
Journal:  Childs Nerv Syst       Date:  1991-04       Impact factor: 1.475
  2 in total

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