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Cited by 56Craniofacial Disorders and TreatmentsGenomics and Rare DiseasesCongenital limb and hand anomalies

Bird-headed dwarfs (Seckel's syndrome)

Harper, Rita G., Orti, Eduardo, Baker, Richard K.·1967·The Journal of Pediatrics
DOI 10.1016/s0022-3476(67)80334-2
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Crossref · 10.1016/s0022-3476(67)80334-2

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6 of 6 references verified0 citation errors · 0 not checkable

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  • Clinical features of patients suffering from Seckel syndrome and Cockayne syndrome are overlapping, with both diseases resulting in microencephaly, 'birdlike' facial features, and severe growth defects.

    “some of the clinical features of patients suffering from Seckel syndrome (which involves deficiencies in the DNA damage checkpoint [27]) and Cockayne syndrome are overlapping, with both diseases resulting in microencephaly, “birdlike” facial features, and severe growth defects (13, 20).”

    From A Role for Checkpoint Kinase-Dependent Rad26 Phosphorylation in Transcription-Coupled DNA Repair in <i>Saccharomyces cerevisiae</i> (2010) · cites this paper as [20]

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Authors
Harper, R. G., Orti, E., & Baker, R. K.
Affiliations
State University of New York (US)
Venue
The Journal of Pediatrics
Publisher
Elsevier BV
Published
1967-05
Volume
70
Issue
5
Pages
799-804
ISSN
0022-3476 (ISSN-L)
DOI
10.1016/s0022-3476(67)80334-2
OpenAlex
W1553054176
Cited by
56
References
6
Citations by year
2024: 1 · 2022: 1 · 2021: 2 · 2020: 1 · 2017: 2 · 2016: 1 · 2014: 1 · 2012: 1
FWCI
1.73
Type
journal article
Language
en
Open access
closed
Licence
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations
  • The Journal of Pediatrics (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Craniofacial Disorders and Treatments
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Developmental Biology › Congenital limb and hand anomalies
Keywords
Seckel syndrome, microcephaly, skeletal abnormalities, dental anomalies, genital anomalies, central nervous system malformations, developmental anomalies, siblings, case series
MeSH terms
Child, Child, Preschool, Dwarfism, Female, Genitalia, Female, Genitalia, Male, Head, Hip Dislocation, Congenital, Humans, Male, Intellectual Disability, Mouth Abnormalities

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