… (D) The HDBR provides access to curated gene expression data. The upper image shows a
… by mapping data from sections as shown in D. Experimental and mapped data are uploaded …

Disruption of FOXP2, a gene encoding a forkhead‐domain transcription factor, causes a severe
developmental disorder of verbal communication, involving profound articulation deficits, …

Planar-cell-polarity (PCP) signalling is necessary for initiation of neural tube closure in higher
vertebrates. In mice with PCP gene mutations, a broad embryonic midline prevents the …

Major malformations of the human eye, including microphthalmia and anophthalmia, are
examples of phenotypes that recur in families yet often show no clear Mendelian inheritance …

Meckel–Gruber syndrome (MKS) is an autosomal recessive lethal malformation syndrome
characterized by renal cystic dysplasia, central nervous system malformations (typically, …

… D, similar to that reported by the maternal aunt who had previously undergone refractive …
D) is lower than that expected for the large posterior segment, probably because of a small …

… In the mouse, Sox2 expression is first detected in cells at the morula stage at embryonic d
(E) 2.5 and then in the inner cell mass of the blastocyst (E3.5) (5). After gastrulation, Sox2 …

… (DK) Transverse sections through the posterior neuropore of eight different cultured embryos
containing beads (asterisk in D) soaked in PBS (D,F,H,J) or Shh (E,G,I,K). (D,F,H) PBS …

… Light microscopy (A,B) and scanning electron microscopy (C,D) both reveal a sharp midline
… in D). Note the strikingly irregular surface of the flat floor plate region (arrows in D) in the …

We describe a recessively inherited frontonasal malformation characterized by a distinctive
facial appearance, with hypertelorism, wide nasal bridge, short nasal ridge, bifid nasal tip, …