Saethre-Chotzen syndrome

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Saethre-Chot·zen syn·drome

(sayt'rĕ chŏt'zen),
condition characterized by craniosynostosis, asymmetry of skull (plagiocephaly), ptosis, prominent ear crus, and cutaneous syndactyly of fingers 2-3 and toes 3-4; autosomal dominant inheritance, caused by mutation in the TWIST transcription factor gene on chromosome 7p.

Saethre-Chot·zen syn·drome

(sayt'rĕ chŏt'zen),
condition characterized by craniosynostosis, asymmetry of skull (plagiocephaly), ptosis, prominent ear crus, and cutaneous syndactyly of fingers 2-3 and toes 3-4; autosomal dominant inheritance, caused by mutation in the TWIST transcription factor gene on chromosome 7p.

Saethre-Chotzen syndrome

A craniosynostosis syndrome (OMIM:101400) characterised by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces and clinodactyly; about half of female patients with Saethre-Chotzen syndrome eventually develop breast cancer.

Molecular pathology
Caused by defects of TWIST1, which encodes a basic helix-loop-helix (bHLH) transcription factor, and FGFR2, which encodes fibroblast growth factor receptor.

Chotzen,

F., 20th century German physician.
Chotzen syndrome - syndactyly, mild mental retardation, hypertelorism, and occasional ptosis.Synonym(s): Saethre-Chotzen syndrome
Saethre-Chotzen syndrome - Synonym(s): Chotzen syndrome

Saethre,

Haakon, 20th century Norwegian psychiatrist.
Saethre-Chotzen syndrome - Synonym(s): Chotzen syndrome
References in periodicals archive ?
In [19], the three kinds of encoding format (Hexadecimal, Based-64 and ACSII code) in the proposed system were compared and analysed.
* CAD ACSII database, which supports the fastest approach to programming the pick-and-place lines and can support other programming efforts such as AOI.
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As the code needed for calculating the mass for each rectangular element was unavailable, the raw data were accessed via an ACSII code de-compiler (Dowling, personal correspondence, 2011).
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[MATHEMATICAL EXPRESSION NOT REPRODUCIBLE IN ACSII.]
You can import data to Write-Up CS from Accountants Relief, ACE, ATB, CPA Software, Peachtree, QuickBooks and other common accounting and bookkeeping programs, as well as from ACSII and spreadsheet format files.
It may be configured for ACSII, Modbus-RTU, or Profibus-DP communications on its isolated RS-485 serial port.
CyberFusion can transfer text, graphics, binary, and executable files, and automatically performs ACSII to EBCDIC conversions where necessary.
ACSII to EBCDIC conversions are made automatically where applicable, as are encryption and decryption.
It also is suggested that bond documents should specify the notice address for DTC, and issuers are strongly encouraged to provide machine-readable (i.e., filed to a diskette in ACSII format) as well as paper copies to DTC's Proxy Department in order to facilitate retransmission of notices?