Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome

AN ORIGINAL HISTOLOGICAL METHOD FOR STUDYING THE VOLAR SKIN OF THE FETAL HANDS AND FEET

(2012) Henrieta Seidenberg-Kajabova et al.   BIOMEDICAL PAPERS-OLOMOUC

Fetal dermatoglyphics

(2010) M. Bat-Miriam Katznelson et al.   CLINICAL GENETICS

The dermatoglyphic pattern of the Kabuki make-up syndrome

(2010) N. Niikawa et al.   CLINICAL GENETICS

Two percent of patients suspected of having Angelman syndrome have TCF4 mutations

(2010) K Takano et al.   CLINICAL GENETICS

CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila

(2009) Christiane Zweier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel 1.4 Mb de novo microdeletion of chromosome 1q21.3 in a child with microcephaly, dysmorphic features and mental retardation

(2009) Sujana Reddy et al.   European Journal of Medical Genetics

A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae

(2009) Keiko Shimojima et al.   European Journal of Medical Genetics

Mutational, functional, and expression studies of theTCF4gene in Pitt-Hopkins syndrome

(2009) Lo��c de Pontual et al.   HUMAN MUTATION

TCF4Deletions in Pitt-Hopkins Syndrome

(2008) Irina Giurgea et al.   HUMAN MUTATION

20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits

(2008) S R Lalani et al.   JOURNAL OF MEDICAL GENETICS

A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome

(2003) Bba De Vries et al.   CLINICAL GENETICS