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Meckel-Gruber syndrome

Known as: dysencephalia splanchnocystica, meckel gruber syndrome 
A rare, lethal, autosomal recessive inherited syndrome characterized by pulmonary hypoplasia, central nervous system malformations, and hepatic… 
National Institutes of Health

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Cerebrorenodigital Syndrome with Limb Malformations and Triradiate AcetabulaHereditary DiseasesMKS1 gene

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Meckel syndrome type 1

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
Meckel gruber syndrome.
  • J. RoyM. Pal
  • Journal of clinical and diagnostic research…
  • 2013
  • Corpus ID: 44532556
Dear Sir, We are reporting a case of Meckel-Gruber Syndrome (MGS), which was identified by its typical structural anomalies… 
2013
2013
Preimplantation Genetic Diagnosis for a Chinese Family with Autosomal Recessive Meckel-Gruber Syndrome Type 3 (MKS3)
Meckel-Gruber syndrome type 3 is an autosomal recessive genetic defect caused by mutations in TMEM67 gene. In our previous study… 
2012
2012
Meckel-Gruber syndrome: Antenatal diagnosis and ethical perspectives.
Meckel-Gruber syndrome (MGS) is an autosomal recessive disorder characterized by occipital encephalocele, polycystic kidneys and… 
2011
2011
Non-universal equilibrium crystal shape results from sticky steps
  • N. Akutsu
  • Journal of Physics: Condensed Matter
  • 2011
  • Corpus ID: 6424825
The anisotropic surface free energy, Andreev surface free energy and equilibrium crystal shape (ECS) z = z(x,y) are calculated… 
2007
2007
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel‐Gruber syndrome
Meckel‐Gruber syndrome (MKS) is an autosomal recessive, usually lethal multisystemic disorder characterized by early… 
2003
2003
Features Described and Illustrated in 1684 Suggesting Meckel-Gruber Syndrome
In 1684, Mr. Christopher Krahe described a monstrous child, born in Denmark on Friday, February 29, 1684. The description is… 
1995
1995
Prenatal diagnosis of Meckel-Gruber syndrome case reports.
Two cases of Meckel-Gruber syndrome are presented. In the first case, abdominal tumor and decreased amniotic fluid were initially… 
Review
1995
Review
1995
Cephalocele detection in utero: sonographic and clinical features
Sonographic and clinical features of 26 fetal cephaloceles were reviewed retrospectively. The most frequent reason for referral… 
Review
1992
Review
1992
Meckel Gruber syndrome: a case diagnosed in utero.
A case of Meckel Gruber syndrome is presented, diagnosed prenatally from the medical history of the mother which revealed a… 
1982
1982
Association of Meckel syndrome with M‐anisosplenia in one patient
This report concerns the concurrence in a male infant of Meckel syndrome (Dysencephalia splanchnocystica) and M‐anisosplenia. a… 
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