Temple–Baraitser syndrome: A rare and possibly unrecognized condition

Temple–Baraitser syndrome: A rare and possibly unrecognized condition

Source :

• American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2010-09.

Descripteurs français

• Pascal (Inist)
  • Anomalie, Arriération mentale, Hypoplasie, Ongle, Pouce.
• Wicri :
  • topic : Génétique.

English descriptors

• KwdEn :
  • Absent nails, Anomaly, Aplasia, Baraitser, Birth weight, Brainstem auditory, Centile, Central translucency, Clinical features, Comparative genomic hybridization, Consistent pattern, Copy number variations, Developmental delay, Distal phalanges, Distinct syndrome, Door syndrome, Downturned, Downturned corners, Facial features, Family history, Gabbett, Genet, Genet part, Genetics, Great toes, Hallux, Head circumference, Hypoplasia, Hypoplasia aplasia, Hypoplastic, Hypoplastic nails, Hypotonia, Large hypotonic mouth, Long philtrum, Lower limbs, Medical genetics, Medical genetics part, Mental retardation, Mild hypertelorism, Nail, Nail(anatomy), Nasal bridge, Neonatal period, Occipitofrontal circumference, Organic acids, Other digits, Patients share, Phalange, Philtrum, Pseudoepiphysis, Short columella, Sporadic inheritance, Subtelomeric analysis, Syndrome, Thumb, Tubular aspect, Uncomplicated pregnancy, University hospital, Year centile.
• Teeft :
  • Absent nails, Anomaly, Aplasia, Baraitser, Birth weight, Brainstem auditory, Centile, Central translucency, Clinical features, Comparative genomic hybridization, Consistent pattern, Copy number variations, Developmental delay, Distal phalanges, Distinct syndrome, Door syndrome, Downturned, Downturned corners, Facial features, Family history, Gabbett, Genet, Genet part, Genetics, Great toes, Hallux, Head circumference, Hypoplasia, Hypoplasia aplasia, Hypoplastic, Hypoplastic nails, Hypotonia, Large hypotonic mouth, Long philtrum, Lower limbs, Medical genetics, Medical genetics part, Mild hypertelorism, Nail, Nasal bridge, Neonatal period, Occipitofrontal circumference, Organic acids, Other digits, Patients share, Phalange, Philtrum, Pseudoepiphysis, Short columella, Sporadic inheritance, Subtelomeric analysis, Syndrome, Tubular aspect, Uncomplicated pregnancy, University hospital, Year centile.

Abstract

• https://api.istex.fr/document/E31FD346EAD6B8C1D648B0A6B93052A5D086BAB7/fulltext/pdf

Affiliations:

• Australie, Belgique, France
• Île-de-France
• Paris

Links toward previous steps (curation, corpus...)

• to stream Istex, to step Corpus: 002A63
• to stream Istex, to step Curation: 002A63
• to stream Istex, to step Checkpoint: 000A77
• to stream Main, to step Merge: 007696
• to stream PascalFrancis, to step Corpus: 002412
• to stream PascalFrancis, to step Corpus: 002A02
• to stream PascalFrancis, to step Curation: 003B79
• to stream PascalFrancis, to step Checkpoint: 001F75
• to stream Main, to step Merge: 007A43
• to stream Main, to step Curation: 007162

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 007162 | SxmlIndent | more

Ou

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 007162 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Asie
   |area=    AustralieFrV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     ISTEX:E31FD346EAD6B8C1D648B0A6B93052A5D086BAB7
   |texte=   Temple–Baraitser syndrome: A rare and possibly unrecognized condition
}}

This area was generated with Dilib version V0.6.33. Data generation: Tue Dec 5 10:43:12 2017. Site generation: Tue Mar 5 14:07:20 2024